전남대학교 중앙도서관

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

학술저널

issue: Human Genetics. 142(1):21-32
Author: Timberlake, Andrew T.^{Aff1, IDs00439022024772_cor1}
Kiziltug, Emre
Jin, Sheng Chih^{Aff2, Aff3}
Nelson-Williams, Carol
Loring, Erin
Allocco, August
Marlier, Arnaud
Banka, Siddharth^{Aff5, Aff6}
Stuart, Helen^{Aff5, Aff6}
Passos-Buenos, Maria Rita
Rosa, Rafael
Rogatto, Silvia R.
Tonne, Elin^{Aff10, Aff11}
Stiegler, Amy L.
Boggon, Titus J.
Alperovich, Michael
Steinbacher, Derek
Staffenberg, David A.
Flores, Roberto L.
Persing, John A.
Kahle, Kristopher T.^{Aff14, Aff15, Aff16}
Lifton, Richard P.^{Aff2, Aff17, IDs00439022024772_cor23}
DB Label: Database : Springer Nature Journals

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De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

학술저널

issue: HUMAN GENETICS; AUG 23 2022, 12p.
Author: Timberlake, Andrew T.
Kiziltug, Emre
Jin, Sheng Chih
Nelson-Williams, Carol
Loring, Erin
Allocco, August
Marlier, Arnaud
Banka, Siddharth
Stuart, Helen
Passos-Buenos, Maria Rita
Rosa, Rafael
Rogatto, Silvia R.
Tonne, Elin
Stiegler, Amy L.
Boggon, Titus J.
Alperovich, Michael
Steinbacher, Derek
Staffenberg, David A.
Flores, Roberto L.
Persing, John A.
Kahle, Kristopher T.
Lifton, Richard P.
Yale Ctr Genome Anal
DB Label: Database : Science Citation Index Expanded

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Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways

학술저널

issue: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; JAN 25 2022, 12p.
Author: Tonne, Elin
Due-Tonnessen, Bernt Johan
Vigeland, Magnus Dehli
Amundsen, Silja Svanstrom
Ribarska, Teodora
Asten, Pamela Marika
Sheng, Ying
Helseth, Eirik
Gilfillan, Gregor Duncan
Mero, Inger-Lise
Heimdal, Ketil Riddervold
DB Label: Database : Science Citation Index Expanded

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

학술저널

issue: AMERICAN JOURNAL OF HUMAN GENETICS; JUN 3 2021, 108 6, p1053-p1068, 16p.
Author: Rots, Dmitrijs
Chater-Diehl, Eric
Dingemans, Alexander J. M.
Goodman, Sarah J.
Siu, Michelle T.
Cytrynbaum, Cheryl
Choufani, Sanaa
Hoang, Ny
Walker, Susan
Awamleh, Zain
Charkow, Joshua
Meyn, Stephen
Pfundt, Rolph
Rinne, Tuula
Gardeitchik, Thatjana
de Vries, Bert B. A.
Deden, A. Chantal
Leenders, Erika
Kwint, Michael
Stumpel, Constance T. R. M.
Stevens, Servi J. C.
Vermeulen, Jeroen R.
van Harssel, Jeske V. T.
Bosch, Danielle G. M.
van Gassen, Koen L., I
van Binsbergen, Ellen
de Geus, Christa M.
Brackel, Hein
Hempel, Maja
Lessel, Davor
Denecke, Jonas
Slavotinek, Anne
Strober, Jonathan
Crunk, Amy
Folk, Leandra
Wentzensen, Ingrid M.
Yang, Hui
Zou, Fanggeng
Millan, Francisca
Person, Richard
Xie, Yili
Liu, Shuxi
Ousager, Lilian B.
Larsen, Martin
Schultz-Rogers, Laura
Morava, Eva
Klee, Eric W.
Berry, Ian R.
Campbell, Jennifer
Lindstrom, Kristin
Pruniski, Brianna
Neumeyer, Ann M.
Radley, Jessica A.
Phornphutkul, Chanika
Schmidt, Berkley
Wilson, William G.
Ounap, Katrin
Reinson, Karit
Pajusalu, Sander
van Haeringen, Arie
Ruivenkamp, Claudia
Cuperus, Roos
Santos-Simarro, Fernando
Palomares-Bralo, Maria
Pacio-Miguez, Marta
Ritter, Alyssa
Bhoj, Elizabeth
Tonne, Elin
Tveten, Kristian
Cappuccio, Gerarda
Brunetti-Pierri, Nicola
Rowe, Leah
Bunn, Jason
Saenz, Margarita
Platzer, Konrad
Mertens, Mareike
Caluseriu, Oana
Nowaczyk, Malgorzata J. M.
Cohn, Ronald D.
Kannu, Peter
Alkhunaizi, Ebba
Chitayat, David
Scherer, Stephen W.
Brunner, Han G.
Vissers, Lisenka E. L. M.
Kleefstra, Tjitske
Koolen, David A.
Weksberg, Rosanna
DB Label: Database : Science Citation Index Expanded

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

학술저널

issue: AMERICAN JOURNAL OF HUMAN GENETICS; MAY 6 2021, 108 5, p857-p873, 17p.
Author: Voisin, Norine
Schnur, Rhonda E.
Douzgou, Sofia
Hiatt, Susan M.
Rustad, Cecilie F.
Brown, Natasha J.
Earl, Dawn L.
Keren, Boris
Levchenko, Olga
Geuer, Sinje
Verheyen, Sarah
Johnson, Diana
Zarate, Yuri A.
Hancarova, Miroslava
Amor, David J.
Bebin, E. Martina
Blatterer, Jasmin
Brusco, Alfredo
Cappuccio, Gerarda
Charrow, Joel
Chatron, Nicolas
Cooper, Gregory M.
Courtin, Thomas
Dadali, Elena
Delafontaine, Julien
Del Giudice, Ennio
Doco, Martine
Douglas, Ganka
Eisenkolbl, Astrid
Funari, Tara
Giannuzzi, Giuliana
Gruber-Sedlmayr, Ursula
Guex, Nicolas
Heron, Delphine
Holla, Oystein L.
Hurst, Anna C. E.
Juusola, Jane
Kronn, David
Lavrov, Alexander
Lee, Crystle
Lorrain, Severine
Merckoll, Else
Mikhaleva, Anna
Norman, Jennifer
Pradervand, Sylvain
Prchalova, Darina
Rhodes, Lindsay
Sanders, Victoria R.
Sedlacek, Zdenek
Seebacher, Heidelis A.
Sellars, Elizabeth A.
Sirchia, Fabio
Takenouchi, Toshiki
Tanaka, Akemi J.
Taska-Tench, Heidi
Tonne, Elin
Tveten, Kristian
Vitiello, Giuseppina
Vlckova, Marketa
Uehara, Tomoko
Nava, Caroline
Yalcin, Binnaz
Kosaki, Kenjiro
Donnai, Dian
Mundlos, Stefan
Brunetti-Pierri, Nicola
Chung, Wendy K.
Reymond, Alexandre
DB Label: Database : Science Citation Index Expanded

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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

학술저널

issue: EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 7 2020, 10p.
Author: Tonne, Elin
Due-Tonnessen, Bernt Johan
Mero, Inger-Lise
Wiig, Ulrikke Straume
Kulseth, Mari Ann
Vigeland, Magnus Dehli
Sheng, Ying
von der Lippe, Charlotte
Tveten, Kristian
Meling, Torstein Ragnar
Helseth, Eirik
Heimdal, Ketil Riddervold
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Epidemiology of craniosynostosis in Norway

학술저널

issue: JOURNAL OF NEUROSURGERY-PEDIATRICS; JUL 2020, 26 1, p68-p75, 8p.
Author: Tonne, Elin
Due-Tonnessen, Bernt J.
Wiig, Ulrikke
Stadheim, Barbro F.
Meling, Torstein R.
Helseth, Eirik
Heimdal, Ketil R.
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text(ECC) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report

학술저널

issue: WORLD JOURNAL OF SURGICAL ONCOLOGY; MAR 3 2016, 14 p63 4p.
Author: Goscinski, Mariusz Adam
Hole, Knut Hakon
Tonne, Elin
Ryder, Truls
Groholt, Krystyna Kotanska
Flatmark, Kjersti
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) OA (Springer) Open Access (BioMed Central) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

학술저널

issue: EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2015, 23 12, p1652-p1656, 5p.
Author: Tonne, Elin
Holdhus, Rita
Stansberg, Christine
Stray-Pedersen, Asbjorg
Petersen, Kjell
Brunner, Han G.
Gilissen, Christian
Hoischen, Alexander
Prescott, Trine
Steen, Vidar M.
Fiskerstrand, Torunn
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

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