부산대학교 도서관

Rawlins LE; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: L.Rawlins@exeter.ac.uk.; Maroofian R; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK.; Cannon SJ; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK.; Daana M; Child Development Center, Clalit health care services, Jerusalem.; Zamani M; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ghani S; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.; Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK.; Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK.; Khan N; Interdisciplinary Nanoscience Center, Gustav Wieds Vej 14, Aarhus University, Aarhus 8000, Denmark.; Khan H; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.; Scardamaglia A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK.; Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille.; Khan SA; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.; Umair M; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.; Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Ahmad F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Rodriguez Cruz PM; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Centro Nacional de Análisis Genómico, Barcelona, Spain; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Salazar-Villacorta A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK.; Ndiaye M; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Diop AG; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.; Owrang D; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.; Alhashem AM; Department of Radiology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.; Obeid M; The American University of Beirut, Beirut, Lebanon.; Khan A; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Lakki, Khyber Pakhtunkhwa, Pakistan; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Beydoun A; The American University of Beirut, Beirut, Lebanon.; Najjar M; The American University of Beirut, Beirut, Lebanon.; Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden.; Zifarelli G; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany.; Hakami WS; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.; Hashem AMA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.; Boustany RN; The American University of Beirut, Beirut, Lebanon.; Burglen L; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France; Centre de Référence des Malformations et Maladies congénitales du cervelet et Département de génétique, Hôpital Trousseau, APHP, Sorbonne Université, 26 avenue du Dr A Netter 75012 Paris, France.; Alavi S; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Palindrome, Isfahan, Iran.; Gunning AC; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Owens M; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Milh M; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille; Aix-Marseille Université, APHM, service de neurologie pédiatrique, Hôpital de la Timone-Enfants, Marseille.; Salah S; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem.; Khan J; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.; Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany; Department of Biology, Chemistry, Pharmacy, Freie Universita¨t Berlin, 14195 Berlin, Germany.; Wright CF; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK.; McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK; University of Plymouth, Plymouth, UK.; Elpeleg O; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem.; Shabbir MI; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.; Houlden H; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK.; Ebner M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany.; Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: E.Baple@exeter.ac.uk.; Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK. Electronic address: A.H.Crosby@exeter.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Azeem A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.; Ahmed AN; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.; Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.; Voutsina N; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Ullah I; Department of Neurology, Khyber Teaching Hospital, Peshawar, 25000, Khyber Pakhtunkhwa, Pakistan.; Ubeyratna N; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Yasin M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.; Baple EL; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Crosby AH; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.; Rawlins LE; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK. l.rawlins@exeter.ac.uk.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK. l.rawlins@exeter.ac.uk.; Saleha S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan. shamimsaleha@yahoo.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M.S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Hübner, Christian A.

Fasham , J , Huebner , A K , Liebmann , L , Khalaf-Nazzal , R , Maroofian , R , Kryeziu , N , Wortmann , S B , Leslie , J S , Ubeyratna , N , Mancini , G M S , van Slegtenhorst , M , Wilke , M , Haack , T B , Shamseldin , H E , Gleeson , J G , Almuhaizea , M , Dweikat , I , Abu-Libdeh , B , Daana , M , Zaki , M S , Wakeling , M N , McGavin , L , Turnpenny , P D , Alkuraya , F S , Houlden , H , Schlattmann , P , Kaila , K , Crosby , A H , Baple , E L & Hübner , C A 2023 , ' SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission ' , Brain : a journal of neurology , vol. 146 , no. 11 , pp. 4547-4561 .

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.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Fasham, J.; Huebner, A.K.; Liebmann, L.; Khalaf-Nazzal, R.; Maroofian, R.; Kryeziu, N.; Wortmann, S.B.; Leslie, J.S.; Ubeyratna, N.; Mancini, G.M.S.; Slegtenhorst, M. van; Wilke, M.; Haack, T.B.; Shamseldin, H.E.; Gleeson, J.G.; Almuhaizea, M.; Dweikat, I.; Abu-Libdeh, B.; Daana, M.; Zaki, M.S.; Wakeling, M.N.; McGavin, L.; Turnpenny, P.D.; Alkuraya, F.S.; Houlden, H.; Schlattmann, P.; Kaila, K.; Crosby, A.H.; Baple, E.L.; Hübner, C.A.

Brain, 146, 11, pp. 4547-4561

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.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L.

AMERICAN JOURNAL OF HUMAN GENETICS; NOV 3 2022, 109 11, p2068-p2079, 12p.

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.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

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.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101598646 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3425 (Print) Linking ISSN: 20763425 NLM ISO Abbreviation: Brain Sci Subsets: PubMed not MEDLINE