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1
Effect of Oral Insulin on Prevention of Diabetes in Relatives of Patients With Type 1 Diabetes A Randomized Clinical Trial 미리보기

학술저널

issue
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION; NOV 21 2017, 318 19, p1891-p1902, 12p.
Author
Greenbaum, C.
Atkinson, M.
Baidal, D.
Battaglia, M.
Bingley, P.
Bosi, E.
Buckner, J.
Clements, M.
Colman, P.
DiMeglio, L.
Evans-Molina, C.
Gitelman, S.
Goland, R.
Gottlieb, P.
Herold, K.
Knip, M.
Krischer, J.
Lernmark, A.
Moore, W.
Moran, A.
Muir, A.
Palmer, J.
Peakman, M.
Philipson, L.
Raskin, P.
Redondo, M.
Rodriguez, H.
Russell, W.
Spain, L.
Schatz, D. A.
Sosenko, J.
Wherrett, D.
Wilson, D.
Winter, W.
Ziegler, A.
Anderson, M.
Antinozzi, P.
Benoist, C.
Blum, J.
Bourcier, K.
Chase, P.
Clare-Salzler, M.
Clynes, R.
Cowie, C.
Eisenbarth, G.
Fathman, C. G.
Grave, G.
Harrison, L.
Hering, B.
Insel, R.
Jordan, S.
Kaufman, F.
Kay, T.
Kenyon, N.
Klines, R.
Lachin, J.
Leschek, E.
Mahon, J.
Marks, J. B.
Monzavi, R.
Nanto-Salonen, K.
Nepom, G.
Orban, T.
Parkman, R.
Pescovitz, M.
Peyman, J.
Pugliese, A.
Ridge, J.
Roep, B.
Roncarolo, M.
Savage, P.
Simell, O.
Sherwin, R.
Siegelman, M.
Skyler, J. S.
Thomas, J.
Trucco, M.
Wagner, J.
Bourcier, Katarzyna
Greenbaum, Carla J.
Krischer, Jeffrey P.
Leschek, Ellen
Rafkin, Lisa
Spain, Lisa
Cowie, Catherine
Foulkes, Mary
Insel, Richard
Krause-Steinrauf, Heidi
Lachin, John M.
Malozowski, Saul
Peyman, John
Ridge, John
Savage, Peter
Skyler, Jay S.
Zafonte, Stephanie J.
Sosenko, Jaym.
Kenyon, Norma S.
Santiago, Irene
Bundy, Brian
Abbondondolo, Michael
Adams, Timothy
Asif, Darlene Amado Ilma
Boonstra, Matthew
Boulware, David
Burroughs, Cristina
Cuthbertson, David
Eberhard, Christopher
Fiske, Steve
Ford, Julie
Garmeson, Jennifer
Guillette, Heather
Geyer, Susan
Hays, Brian
Henderson, Courtney
Henry, Martha
Heyman, Kathleen
Hsiao, Belinda
Karges, Christina
Kinderman, Amanda
Lane, Lindsay
Leinbach, Ashley
Liu, Shu
Lloyd, Jennifer
Malloy, Jamie
Maddox, Kristin
Martin, Julie
Miller, Jessica
Moore, Margaret
Muller, Sarah
Nguyen, Thuy
O'Donnell, Ryan
Parker, Melissa
Pereyra, M. J.
Reed, Nichole
Roberts, Amy
Sadler, Kelly
Stavros, Tina
Tamura, Roy
Wood, Keith
Xu, Ping
Young, Kenneth
Alies, Persida
Badias, Franz
Baker, Aaron
Bassi, Monica
Beam, Craig
Bounmananh, London
Bream, Susan
Deemer, Mary
Freeman, Doug
Gough, Jessica
Ginem, Jinin
Granger, Moriah
Holloway, Mary
Kieffer, Michelle
Lane, Page
Law, Pat
Linton, Cristin
Nallamshetty, Lavanya
Oduah, Vanessa
Parrimon, Yazandra
Paulus, Kate
Pilger, Jennifer
Ramiro, Joy
Ritzie, A. Qesha Luvon
Sharma, Archana
Shor, Audrey
Song, Xiaohong
Terry, Amanda
Weinberger, Jeanne
Wootten, Margaret
Harding, Mary Foulkes Pamela
McDonough, Susan
Mcgee, Paula F.
Hess, Kimberly Owens
Phoebus, Donna
Quinlan, Scott
Raiden, Erica
Fradkin, Judith
Beck, Gerald
Blumberg, Emily
Gubitosi-Klug, Rose
Laffel, Lori
Veatch, Robert
Wallace, Dennis
Braun, Jonathan
Brillon, David
Lernmark, Ake
Lo, Bernard
Mitchell, Herman
Naji, Ali
Nerup, Jorn
Orchard, Trevor
Steffes, Michael
Tsiatis, Anastasios
Zinman, Bernard
Loechelt, Brett
Baden, Lindsey
Green, Michael
Weinberg, Adriana
Marcovina, Santica
Palmer, Jerry P.
Yu, Liping
Winter, William
Shultz, Annie
Batts, Emily
Fitzpatrick, Kristin
Ramey, Mary
Guerra, Randy
Webb, Christopher
Caffey, F.
Carr, L.
Ergun-Longmire, B.
Fenton, C.
Giebner, D.
Johnson, J.
Maglionico, D.
Marinelli, M.
Martin, K.
Minnozzi, E.
Riley, W.
Wilson, M.
Gougeon, C.
Ho, J.
Huang, C.
Pacaud, D.
Virtanen, H.
Craig, C.
Ghatak, A.
Henderson, T.
Leyland, H.
Padmore, K.
Paul, P.
Brickman, W.
Halsey-Lyda, M.
Petrie, P.
Rizzo, D.
Steuer, R.
Suchyta, K.
Torchen, L.
Zimmerman, D.
Bode, B.
Dial, M.
Gazaway, K.
Hosey, R.
Alkanani, A.
Barker, J.
Barr, M.
Blau, A.
Burdick, P.
Burke, B.
Chase, H.
Drye, M.
Escobar, E.
Fitzgerald-Miller, L.
Fouts, A.
Gage, V.
Gall, E.
Goettle, H.
Harris, S.
Ketchum, K.
King, M.
Klingensmith, G.
Lehr, D.
Lehr, J.
Lewis, L.
Logsden-Sackett, N.
Lykens, J.
Maahs, D.
Michels, A.
Pelletier, S.
Rihanek, M.
Rodriguez, P.
Schauwecker, A.
Simmons, K.
Smith, J.
Steck, A.
Tran, B.
Tran, T.
Wadwa, P.
Wagner, R.
Wright, H.
Betancourt, J.
Bui, V.
DeSalvo, D.
Gomez, D.
Jake, K.
Lynds, J.
McCartney, T.
McDonald, A.
Pena, S.
Pietropaolo, M.
Shippy, K.
Zheng, X.
Allen, L.
Batts, E.
Brown, T.
Dove, A.
Graziano, E.
Hao, W.
Harrington, R.
Hefty, D.
Kang, D.
Klein, J.
Kuhns, K.
Lamola, S.
Lettau, M.
Lord, S.
Machmer, H.
McCulloch-Olson, M.
Miller, L.
Odegard, J.
Ramey, M.
Romasco, M.
Russell, B.
Sachter, E.
Sanda, S.
Scheuffele, T.
Shultz, A.
Snavely, J.
St Marie, M.
Tobin, M.
Tordillos, C.
Tridgell, D.
VanBuecken, D.
Varner, K.
Vellek, B.
Vendettuoli, H.
Vizzutti, M.
Webber, C.
Wickstrom, N.
Ackerman, K.
Gunville, F.
Nelson, T.
Aston, K.
Barrett, T.
Dale, K.
Gray, Z.
Kershaw, M.
Makusha, L.
McTernan, C.
Okwu, F.
Penny-Thomas, K.
Surplice, I.
Frattaroli, P.
Gihawi, A.
Kanumakala, S.
Laycock, C.
Ramsay, R.
Symes, L.
Wlazly, D.
Healy, F.
Bowden, K.
Doughty, I.
Haydock, H.
Kennedy, K.
Parker, V.
Plimmer, N.
Swart, L.
Wood, C.
Leyva, C.
Padilla, J.
Rodriguez, I.
Ahmad, T.
Bhatia, S.
Conrad, S.
Egli, C.
Flores, B.
Higa, A.
Leong, K.
Ng, V.
Oakes, S.
Olson, J.
Blackmore, A.
Bradley, B.
Cooper, T.
Courtney, J.
Lawson, M.
Richardson, C.
Watson, C.
Blind, J.
Bowden, S.
Bowen, B.
Carter, K.
Cecrle, M.
Chaudhari, M.
Cherko, J.
Dyer, J.
Ellis, K.
Haines, J.
Hapanowicz, C.
Hardin, D.
Henwood, M.
Hoffman, R.
Lamberjack, K.
Leary, J.
Lewis, S.
Mhaskar, R.
Rowe, S.
Schoeginger, L.
Stiltner, T.
Bock, M.
Castaneda, N.
Fisher, L.
Geffner, M.
Gonzalez, M.
Halvorson, M.
Hisakado, M.
Jeandron, D.
Kwan, K.
Marks, L.
Medina, B.
Miller, D.
Ng, E.
Salazar, C.
Tjauw, A.
Wood, J.
Woods, A.
Xu, Y.
Chalew, S.
Daniels, J.
Gomez, R.
Lala, A.
Layburn, S.
Meyers, M.
Sonnier, S.
Valley, S.
Ayala, N.
Bhangoo, A.
Bowen, S.
Cervisi, J.
Chase, Y.
Clark, S.
Daniels, M.
Flannery, T.
Forghani, N.
Humphrey, L.
Krause, G.
Less, J.
Lester, S.
Magedman, G.
Montgomery, K.
Preasmyer, S.
Quintana, R.
Randhawa, R.
Reh, C.
Speer, H.
Stockton, W.
Sutton, F.
Tran, A.
Trihn, L.
Tu, K.
Varni, N.
Ackermann, A.
Capella, C.
Clark, C.
Gralewski, K.
Hawkes, C.
Kim, R.
Katz, L. Levitt
Liilii, R.
McKenzie, O.
Murphy, K.
Norris, M.
Orellana, J.
Schwartzman, B.
Sheth, S.
Volpe, R.
Willi, S.
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Hodgman, S.
Kendall, D.
Logan, F.
Lunt, H.
Willis, J.
Crimmins, N.
Elder, D.
Lagory, D.
Schultz, C.
Stamper, M.
Weis, T.
Armbruster, D.
Konstantinopoulus, P.
Latham, D.
Markle, T.
Mawhorter, C.
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Rogers, D.
Schmidt, N.
Switzer, C.
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Levine, E.
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Parra, Z.
Pollak, S.
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Softness, B.
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Williams, K.
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Zhang, H.
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Kidd, G.
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Miller, T.
Reeves, G.
Brousell, C. Swenson
Hendry, G.
Manning, P.
Ali, A.
Collier, H.
Del Rio, A.
Gardner, C.
Logan, A.
Patel, I.
Ramtoola, S.
Rishton, C.
Robinson, D.
Whalley, G.
Childs, E.
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Jordan, K.
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Kerrigan, J.
Nickels, D.
Tapiador, C.
Van Audenhove, J.
Wirthwein, E.
Allen, C.
Anderson, K.
Michaud, D.
Sadurska, K.
Snodgrass, H.
Antich, A.
Brown, M.
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Olson, C.
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Beresford, S.
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Abdelghany, O.
Feldman, L.
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Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females. 미리보기

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Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108152. Date of Electronic Publication: 2024 Feb 03.
Author
Bier C; Hayward Genetics Center, Tulane School of Medicine, 1430 Tulane Ave, New Orleans, 70112, Louisiana, United States of America.
Dickey K; Internal Medicine, Clinical Genetics, UT Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, United States of America.
Bibb B; Pediatrics, Pediatric Genetics and Metabolism, Kentucky College of Medicine, 740 S. Limestone St, Lexington, KY 40536-0298, United States of America.
Crutcher A; Pediatrics, Pediatric Genetics and Metabolism, Kentucky College of Medicine, 740 S. Limestone St, Lexington, KY 40536-0298, United States of America.
Sponberg R; Division of Metabolic Disorders, PSF, Childrens Hospital of Orange County, 1201 W La Veta Ave, Orange, CA 92868, United States of America.
Chang R; Division of Metabolic Disorders, PSF, Childrens Hospital of Orange County, 1201 W La Veta Ave, Orange, CA 92868, United States of America.
Boyer M; Division of Metabolic Disorders, PSF, Childrens Hospital of Orange County, 1201 W La Veta Ave, Orange, CA 92868, United States of America.
Davis-Keppen L; Department of Medical Genetics, USD Sanford School of Medicine, Sanford Children's Specialty Clinic, routing #6410, 1600 W 22nd Street, Sioux Falls, SD 57117, United States of America.
Matthes C; Department of Medical Genetics, USD Sanford School of Medicine, Sanford Children's Specialty Clinic, routing #6410, 1600 W 22nd Street, Sioux Falls, SD 57117, United States of America.
Tharp M; Pediatrics, Medical Genetics, University of Mississippi, Medical Center, 2500 North State Street, Jackson, MS 39216, United States of America.
Vice D; Pediatrics, Medical Genetics and Metabolism, University of Texas Medical Branch, 301 University Blvd., Galveston, TX 77555-0359, United States of America.
Cooney E; Pediatrics, Medical Genetics and Metabolism, University of Texas Medical Branch, 301 University Blvd., Galveston, TX 77555-0359, United States of America.
Morand M; Pediatrics, Medical Genetics and Metabolism, University of Texas Medical Branch, 301 University Blvd., Galveston, TX 77555-0359, United States of America.
Ray J; Pediatrics, Medical Genetics and Metabolism, University of Texas Medical Branch, 301 University Blvd., Galveston, TX 77555-0359, United States of America.
Lah M; Indiana University School of Medicine/IUHP, Department of Medical and Molecular Genetics, Department of Pediatrics, 975 W. Walnut St, IB130, Indianapolis, IN 46202, United States of America.
McNutt M; Internal Medicine, Clinical Genetics, UT Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, United States of America.
Andersson HC; Hayward Genetics Center, Tulane School of Medicine, 1430 Tulane Ave, New Orleans, 70112, Louisiana, United States of America. Electronic address: handers@tulane.edu.
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5
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. 미리보기

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American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.
Author
Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.
Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.
Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain.
Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark.
Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark.
Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA.
Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.
Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.
Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA.
Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain.
Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal.
Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.
Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.
Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.
Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.
Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA.
Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands.
Potgieter ST; Laurentius Hospital, Roermond, the Netherlands.
Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.
Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.
Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.
Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.
Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.
Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland.
Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.
Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.
Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.
Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.
Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.
Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.
Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.
Spranger S; Practice of Human Genetics, Bremen, Germany.
Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy.
Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia.
Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia.
Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia.
Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA.
Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK.
Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.
Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.
Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA.
Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany.
Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France.
Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.
Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.
Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.
Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca.
Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
DB Label
Database : MEDLINE
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9
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. 미리보기

학술저널

issue
American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 544-554. Date of Electronic Publication: 2020 Jul 29.
Author
Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Kirchner P; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
van de Beek I; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands.
Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands.
van Haelst M; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, the Netherlands.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Dutra-Clarke M; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.
Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10019, USA.
Alkelai A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10019, USA.
Aggarwal V; Institute for Genomic Medicine and Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10019, USA.
Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Straussberg R; Neurogenetics Clinic, Neurology Unit, Schneider Children's Medical Center, Petah Tikva 49202, Israel; Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel.
Cohen R; Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel; Neurology Institute and Epilepsy Center, Schneider Children's Medical Center, Petah Tikva 49202, Israel.
Horist B; Pediatrics and Genetics, Alpharetta, GA 30005, USA.
Krishnamurthy V; Pediatrics and Genetics, Alpharetta, GA 30005, USA.
McWalter K; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Davis-Keppen L; University of South Dakota, Sanford School of Medicine, Sioux Falls, SD 57105, USA.
Ohden L; University of South Dakota, Sanford School of Medicine, Sioux Falls, SD 57105, USA.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.
de Man SA; Department of Pediatrics, Amphia Hospital, 4818 CK Breda, the Netherlands.
Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.
DB Label
Database : MEDLINE
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Open Access (PubMed Central)  Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
10
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 미리보기

학술저널

issue
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.
Author
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.
Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.
Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
DB Label
Database : MEDLINE
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