부산대학교 도서관

Rice, Gillian I ; Forte, Gabriella M A ; Szynkiewicz, Marcin ; Chase, Diana S ; Aeby, Alec ; Abdel-Hamid, Mohamed S ; Ackroyd, Sam ; Allcock, Rebecca ; Bailey, Kathryn M ; Balottin, Umberto ; Barnerias, Christine ; Bernard, Genevieve ; Bodemer, Christine ; Botella, Maria P ; Cereda, Cristina ; Chandler, Kate E ; Dabydeen, Lyvia ; Dale, Russell C ; De Laet, Corinne ; De Goede, Christian G E L ; del Toro, Mireia ; Effat, Laila ; Enamorado, Noemi Nunez ; Fazzi, Elisa ; Gener, Blanca ; Haldre, Madli ; Lin, Jean-Pierre S-M ; Livingston, John H ; Lourenco, Charles Marques ; Marques, Wilson, Jr ; Oades, Patrick ; Peterson, Pärt ; Rasmussen, Magnhild ; Roubertie, Agathe ; Schmidt, Johanna Loewenstein ; Shalev, Stavit A ; Simon, Rogelio ; Spiegel, Ronen ; Swoboda, Kathryn J ; Temtamy, Samia A ; Vassallo, Grace ; Vilain, Catheline N ; Vogt, Julie ; Wermenbol, Vanessa ; Whitehouse, William P ; Soler, Doriette ; Olivieri, Ivana ; Orcesi, Simona ; Aglan, Mona S ; Zaki, Maha S ; Abdel-Salam, Ghada M H ; Vanderver, Adeline ; Kisand, Kai ; Rozenberg, Flore ; Lebon, Pierre ; Crow, Yanick J

In Lancet Neurology December 2013 12(12):1159-1169

Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; ElKhayat SH; Department of Pediatric Medical Studies, Faculty of Postgraduate Childhood Studies, Ain Shams University, Cairo, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt ghada.abdelsalam@gmail.com.; Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Ghafar SF; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Girgis M; Department of Pediatrics, Cairo University, Giza, Egypt.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. mohamadnrc@hotmail.com.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences (PSAS), Beni-Suef University, Beni-Suef, Egypt.; Ahmed AE; Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences (PSAS), Beni-Suef University, Beni-Suef, Egypt.; Higher Technology Institute of Applied Health Sciences, Badr Academy for Technology and Sciences, Badr City, Cairo, Egypt.; Mohammed ET; Biochemistry Department, Faculty of Veterinary Medicine, Beni-Suef University, Beni-Suef, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Dharmadhikari AV; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.; Abad MA; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.; Human Molecular Genetics Lab, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG, London, UK.; Sands TT; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.; Samejima I; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Shen Y; Translational Research Center for the Nervous System, Brain Cognition and Brain Disease Institute (BCBDI), Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, 518055, Shenzhen, Guangdong, China.; Faculty of Life and Health sciences, Shenzhen University of Advanced Technology, 518055, Shenzhen, Guangdong, China.; Department of Pediatrics, Chinese PLA General Hospital, Medical School of Chinese People's Liberation Army, 100853, Beijing, China.; Department of Pediatrics, Fujian Medical University Union Hospital, 350001, Fuzhou, China.; Wear MA; Edinburgh Protein Production Facility (EPPF), University of Edinburgh, King's Buildings, Max Born Crescent, Edinburgh, EH9 3BF, UK.; Moore KE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.; Kondakova E; Institute of Neuroscience, Laboratory of Genetics of Brain Development, National Research Lobachevsky State University of Nizhny Novgorod, 603022, 23 Gagarin avenue, Nizhny, Novgorod, Russia.; Mitina N; Institute of Neuroscience, Laboratory of Genetics of Brain Development, National Research Lobachevsky State University of Nizhny Novgorod, 603022, 23 Gagarin avenue, Nizhny, Novgorod, Russia.; Schaub T; Institute of Cell and Neurobiology, Charité Universitätsmedizin Berlin, 10117, Berlin, Charitéplatz 1, Germany.; Lee GK; Personalized Care (PCARE) Program, Department of Pathology and Laboratory Medicine; The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.; Umandap CH; Medical Genetics, DMG Children's Rehabilitative Services, Phoenix, AZ, 85013, USA.; Division of Clinical Genetics, Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA.; Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA.; Iglesias AD; Division of Clinical Genetics, Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gabriel H; Praxisfür Humangenetik Tübingen, Tübingen, Germany.; Rentas S; Department of Pathology, Duke University School of Medicine, Durham, NC, USA.; Rippert AL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gray C; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Mosher TM; Ambry Genetics, Aliso Viejo, CA, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, OH, USA.; Albert DVF; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Neurology, Nationwide Children's Hospital, Columbus, OH 43205, OH, USA.; Norwood H; GeneDx, LLC., Gaithersburg, MD, USA.; Lewanda AF; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Eker HK; Department of Medical Genetics, Konya City Hospital, Konya, Turkey.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lippa NC; Department of Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Vena N; Department of Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Heinzen EL; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA.; Department of Genetics, School of Medicine, University of North Carolina, Chapel Hill, NC, USA.; Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Mignot C; Département de Génétique, APHP Sorbonne Université, 75013, Paris, France.; de Sainte Agathe JM; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Seifia T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622, Cairo, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622, Cairo, Egypt.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Dawoud H; Pediatrics Department, Faculty of Medicine, Tanta University, El-Geesh Street, Tanta, 31527, Egypt.; Lofty A; Pediatrics Department, Faculty of Medicine, Tanta University, El-Geesh Street, Tanta, 31527, Egypt.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.; Afzal E; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan.; Zafar F; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG, London, UK.; Gossett D; Texas Child Neurology, Plano, TX, 75024, USA.; Neurology Consultants of Dallas, Dallas, TX, 75243, USA.; Towne MC; Ambry Genetics, Aliso Viejo, CA, USA.; Yeneabat R; Departments of Pathology and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Perez-Duenas B; Department of Paediatric Neurology, Hospital Vall d'Hebron, Barcelona, Spain.; Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Paediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Cazurro-Gutierrez A; Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Paediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Verdura E; Vall d'Hebron Research Institute, Barcelona, Spain.; Molecular Biology CORE, Biomedical Diagnostic Center (CDB), Hospital, l Clínic de Barcelona, Barcelona, Spain.; Cantarin-Extremera V; Department of Paediatric Neurology, Hospital Infantil Niño Jesús, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER (GCV23/ER/3)), ISCIII, Madrid, Spain.; Marques ADV; Gene Center, Department of Biochemistry, Ludwig-Maximilians Universität, Munich, Germany.; Helwak A; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Tollervey D; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Wontakal SN; Departments of Pathology and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Aggarwal VS; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Tarabykin V; Institute of Neuroscience, Laboratory of Genetics of Brain Development, National Research Lobachevsky State University of Nizhny Novgorod, 603022, 23 Gagarin avenue, Nizhny, Novgorod, Russia.; Institute of Cell and Neurobiology, Charité Universitätsmedizin Berlin, 10117, Berlin, Charitéplatz 1, Germany.; Ohta S; Institute for Genetic Medicine Pathophysiology, Hokkaido University, Sapporo, Japan.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG, London, UK.; Earnshaw WC; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA. eridavis@luriechildrens.org.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA. eridavis@luriechildrens.org.; Jeyaprakash AA; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom. jeyaprakash.arulanandam@ed.ac.uk.; Molecular Biology CORE, Biomedical Diagnostic Center (CDB), Hospital, l Clínic de Barcelona, Barcelona, Spain. jeyaprakash.arulanandam@ed.ac.uk.; Liao J; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, 10032, USA. jl5098@cumc.columbia.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt.; Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences (PSAS), Beni-Suef University, Beni-Suef, 62511, Egypt.; Ahmed AE; Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences (PSAS), Beni-Suef University, Beni-Suef, 62511, Egypt.; Higher Technology Institute of Applied Health Sciences, Badr Academy for technology and sciences, Badr City, Cairo, Egypt.; Mohammed ET; Biochemistry Department, Faculty of Veterinary Medicine, Beni-Suef University, Beni-Suef, 62511, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt. mohamadnrc@hotmail.com.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt. dr_mahazaki@yahoo.com.

Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

Emam BA; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Eid M; Medical Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Girgis M; Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Ragab OA; Neurosurgery Department, Faculty of Medicine, Beni Suef University, Beni Suef, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El-Kiki H; Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Abdel-Hady S; Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Li S; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan.; Takada S; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Salem AMS; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.; Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Fukai R; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Medical Science Services, IQVIA Services Japan G.K., Tokyo, Japan.; Ohshima T; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan. ohshima@waseda.jp.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.; Miyake N; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan. nomiyake@ri.ncgm.go.jp.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nomiyake@ri.ncgm.go.jp.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Sayed ISM; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Mohamed AM; Institute of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt. amalmahmoud15@yahoo.com.; Eid O; Institute of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.; Farid M; Institute of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.; Ashaat E; Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, National Research Centre, Cairo, Egypt.; El-Bassyouni HT; Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Essa M; Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Mahrous R; Institute of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.; Erian PSF; Institute of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.; Refaat KM; Institute of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.; Fayez A; Molecular Genetics and Enzymology Department, National Research Centre, Cairo, Egypt.; Zaki M; Clinical Genetics Department, National Research Centre, Cairo, Egypt.

Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

Lee EH; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Pediatrics, College of Medicine, Kyung Hee University, Seoul, Korea.; Kim-Mcmanus O; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Yang JH; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Haas R; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Abdel-Salam GMH; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Nakamura Y; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Abdel-Hamind MS; Human Genetics and Genome Research Division, Medical Molecular Genetic Department, National Research Centre, Cairo, Egypt.; Ebrahimi-Fakhari D; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Alecu JE; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.; Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Naples, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gross S; Department of Pediatric Neurology, Social Pediatrics and Epileptology, Center for Pediatrics and Adolescent Medicine at the University Hospital Giessen and Marburg GmbH, Marburg, Germany.; Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Rare Diseases and Orphan Drugs Application and Research Center, ACURARE, Acıbadem University, Istanbul, Turkey.; Najarzadeh Totbati P; Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Yadavilli M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Friedman L; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Ojeda NM; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.; Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, California, USA.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Elsner, Leonie von; Chai, Guoliang; Schneeberger, Pauline E; Harms, Frederike L; Casar, Christian; Qi, Minyue; Alawi, Malik; Abdel-Salam, Ghada M H; Zaki, Maha S; Arndt, Florian; Yang, Xiaoxu; Stanley, Valentina; Hempel, Maja; Gleeson, Joseph G; Kutsche, Kerstin; von Elsner, Leonie

Brain: A Journal of Neurology. Apr2022, Vol. 145 Issue 4, p1551-1563. 13p.

Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Ghafar SF; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Aleem AF; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Essawi ML; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Ghafar SF; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. dr_mahazaki@yahoo.com.; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Eid M; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El-Serafy MA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El-Sayed H; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 8401784 Publication Model: Print Cited Medium: Internet ISSN: 1873-474X (Electronic) Linking ISSN: 07365748 NLM ISO Abbreviation: Int J Dev Neurosci Subsets: MEDLINE

Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; El-Bassyouni HT; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Ashour AM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Hamed K; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Soliman DR; Department of Pediatrics, Faculty of Medicine, Benha University, Benha.; Hegazy I; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Abdel-Hadi S; Department of Pediatric Neurology, Children's Hospital, Cairo University.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Mehrez M; Department of Orodental Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Hassib NF; Department of Orodental Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Dental Consultant, Dental Clinics, School of Dentistry, New Giza University, Giza.; Al Kersh MA; Orthopaedic Department, Ain Shams University.; Othman AI; Radiology Department, Ain Shams University.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo.

Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

El‐Dessouky, Sara H.; Aboulghar, Mona M.; Gaafar, Hassan M.; Abdella, Rana M.; Sharaf, Marwa F.; Ateya, Mohamed I.; Elarab, Ahmed Ezz; Zidan, Walaa H.; Helal, Rania M.; Aboelsaud, Samah M.; Eid, Maha M.; Abdel‐Salam, Ghada M.H.; El-Dessouky, Sara H; Abdel-Salam, Ghada M H

Prenatal Diagnosis; Apr2020, Vol. 40 Issue 5, p565-576, 12p

Rafat K; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE