전남대학교 중앙도서관

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

보고서

issue: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar 04, pp. e63579. Date of Electronic Publication: 2024 Mar 04.
Author: Khalaf-Nazzal R; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine.
Dweikat I; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine.
Ubeyratna N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Fasham J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Alawneh M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine.
Leslie J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Maree M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.
Gunning A; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Zayed DZ; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine.
Voutsina N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK.; University of Plymouth, Plymouth, UK.
Sawafta R; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine.
Owens M; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Baker W; Paediatric Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine.
Turnpenny P; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Al-Hijawi F; Paediatric Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine.
Baple EL; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Crosby AH; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
DB Label: Database : MEDLINE

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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

학술저널

issue: Brain : a journal of neurology [Brain] 2023 Nov 02; Vol. 146 (11), pp. 4547-4561.
Author: Fasham J; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
Huebner AK; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, 07747 Jena, Germany.
Liebmann L; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, 07747 Jena, Germany.
Khalaf-Nazzal R; Department of Biomedical Sciences, Faculty of Medicine, Arab American University of Palestine, Jenin, P227, Palestine.
Maroofian R; Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, UK.
Kryeziu N; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, 07747 Jena, Germany.
Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, 6525 GA Nijmegen, The Netherlands.; Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany.
Leslie JS; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
Ubeyratna N; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
Wilke M; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Almuhaizea M; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
Dweikat I; Department of Biomedical Sciences, Faculty of Medicine, Arab American University of Palestine, Jenin, P227, Palestine.
Abu-Libdeh B; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University, East Jerusalem, 95908, Palestine.
Daana M; Department of Pediatrics, Arab Women's Union Hospital, Nablus, P400, Palestine.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt.
Wakeling MN; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
McGavin L; Department of Radiology, Derriford Hospital, Plymouth PL6 8DH, UK.
Turnpenny PD; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
Houlden H; Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, UK.
Schlattmann P; Institute for Medical Statistics, Computer Science and Data Science, Jena University Hospital, 07747 Jena, Germany.
Kaila K; Molecular and Integrative Biosciences, University of Helsinki, 00014 Helsinki, Finland.; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland.
Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, Friedrich Schiller Universität, 07747 Jena, Germany.
DB Label: Database : MEDLINE

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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

학술저널

issue: American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 2068-2079. Date of Electronic Publication: 2022 Oct 24.
Author: Khalaf-Nazzal R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin P227, Palestine.
Fasham J; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK.
Inskeep KA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA.
Blizzard LE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA.
Leslie JS; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
Ubeyratna N; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Griffith JL; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Baker W; Paediatrics Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine.
Al-Hijawi F; Paediatrics Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine.
Keough KC; Department of Pediatrics, Dell Medical School, 1400 Barbara Jordan Boulevard, Austin, TX 78723, USA; Child Neurology Consultants of Austin, 7940 Shoal Creek Boulevard, Suite 100, Austin, TX 78757, USA.
Gezdirici A; Department of Medical Genetics, Başakşehir Çam and Sakura City Hospital, 34480 Istanbul, Turkey.
Pena L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Spaeth CG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Turnpenny PD; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK.
Walsh JR; Department of Neurological Surgery, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
Ray R; Departments of Pediatrics and Medical Genetics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Neilson A; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
Kouranova E; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
Cui X; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
Curiel DT; Department of Biomedical Engineering, McKelvey School of Engineering, Washington University in Saint Louis, St. Louis, MO 63130, USA; Division of Cancer Biology, Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA; Biologic Therapeutics Center, Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA.
Stottmann RW; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Crosby AH; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
Baple EL; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK. Electronic address: e.baple@exeter.ac.uk.
DB Label: Database : MEDLINE

원문보기: Open Access (PubMed Central) Full Text (ScienceDirect O/A) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

학술저널

issue: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2249-2261. Date of Electronic Publication: 2022 Sep 08.
Author: Leslie JS; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
Hjeij R; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Vivante A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Pediatrics B and Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Bearce EA; Institute of Molecular Biology, University of Oregon, Eugene, OR.
Dyer L; MRC Harwell Institute, Harwell Campus, Oxfordshire, Oxford, United Kingdom.
Wang J; Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark.
Rawlins L; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
Kennedy J; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
Ubeyratna N; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
Fasham J; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
Irons ZH; Institute of Molecular Biology, University of Oregon, Eugene, OR.
Craig SB; Institute of Molecular Biology, University of Oregon, Eugene, OR.
Koenig J; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
George S; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Pode-Shakked B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Bolkier Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Heart Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Barel O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Israel.
Mane S; Department of Genetics, Yale School of Medicine, New Haven, CT.
Frederiksen KK; Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark.
Wenger O; New Leaf Center Clinic for Special Children, Mt Eaton, OH.
Scott E; New Leaf Center Clinic for Special Children, Mt Eaton, OH.
Cross HE; Department of Ophthalmology and Vision Science, University of Arizona College of Medicine, University of Arizona, Tucson, AZ.
Lorentzen E; Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark.
Norris DP; MRC Harwell Institute, Harwell Campus, Oxfordshire, Oxford, United Kingdom.
Anikster Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Israel.
Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Grimes DT; Institute of Molecular Biology, University of Oregon, Eugene, OR. Electronic address: DTGrimes@uoregon.edu.
Crosby AH; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address: A.H.Crosby@exeter.ac.uk.
Baple EL; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address: E.Baple@exeter.ac.uk.
DB Label: Database : MEDLINE

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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

학술저널

issue: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Oct; Vol. 29 (10), pp. 1570-1576. Date of Electronic Publication: 2021 May 20.
Author: Lin S; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Fasham J; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; Peninsula Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Al-Hijawi F; Paediatrics' Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine.
Qutob N; Department of Health Sciences, Faculty of Graduate Studies, Arab American University of Palestine, Ramallah, Palestine.
Gunning A; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Leslie JS; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK.
Ubeyratna N; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Baker W; Paediatrics Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine.
Zeid R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine.
Turnpenny PD; Peninsula Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK. E.Baple@exeter.ac.uk.; Peninsula Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK. E.Baple@exeter.ac.uk.
Khalaf-Nazzal R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine. reham.nazzal@aaup.edu.
DB Label: Database : MEDLINE

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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.

학술저널

issue: Brain sciences [Brain Sci] 2021 May 11; Vol. 11 (5). Date of Electronic Publication: 2021 May 11.
Author: Khalaf-Nazzal R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin P227, Palestine.
Fasham J; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter EX1 2ED, UK.
Ubeyratna N; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
Evans DJ; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Leslie JS; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
Warner TT; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, 1 Wakefield Street, London WC1N 1PJ, UK.
Al-Hijawi F; Paediatrics' Community Outpatient Clinics, Palestinian Ministry of Health, Jenin P200, Palestine.
Alshaer S; Faculty of Graduate Studies, Arab American University, Ramallah P622, Palestine.
Baker W; Paediatrics Department, Dr. Khalil Suleiman Government Hospital, Jenin P200, Palestine.
Turnpenny PD; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter EX1 2ED, UK.
Baple EL; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter EX1 2ED, UK.
Crosby AH; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
DB Label: Database : MEDLINE

원문보기: Full Text (원문보기) Open Access (PubMed Central) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS

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