부산대학교 도서관

Scala, M.; Wortmann, S.B.; Kaya, N.; Stellingwerff, M.D.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Ciara, E.; Tort, F.; Sheidley, B.; Poduri, A.; Jayakar, P.; Jayakar, A.; Upadia, J.; Walano, N.; Haack, T.B.; Prokisch, H.; Aldhalaan, H.; Karimiani, E.G.; Yildiz, Y.; Ceylan, A.C.; Santiago-Sim, T.; Dameron, A.; Yang, H.; Toosi, M.B.; Ashrafzadeh, F.; Akhondian, J.; Imannezhad, S.; Mirzadeh, H.S.; Maqbool, S.; Farid, A.; Al-Muhaizea, M.A.; Alshwameen, M.O.; Aldowsari, L.; Alsagob, M.; Alyousef, A.; Almass, R.; AlHargan, A.; Alwadei, A.H.; AlRasheed, M.M.; Colak, D.; Alqudairy, H.; Khan, S.; Lines, M.A.; Cazorla, M.; Ribes, A.; Morava, E.; Bibi, F.; Haider, S.; Ferla, M.P.; Taylor, J.C.; Alsaif, H.S.; Firdous, A.; Hashem, M.; Shashkin, C.; Koneev, K.; Kaiyrzhanov, R.; Efthymiou, S.; Genomics, Q.S.; Schmitt-Mechelke, T.; Ziegler, A.; Issa, M.Y.; Elbendary, H.M.; Striano, P.; Alkuraya, F.S.; Zaki, M.S.; Gleeson, J.G.; Barakat, T.S.; Bierau, J.; van der Knaap, M.S.; Maroofian, R.; Houlden, H.

Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419

AlQudairy H; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; AlMuhaizea MA; Neuroimmunology and Neuromuscular Department, MBC:76, Neuroscience Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, P.O. Box 50927, Riyadh, 11533, Saudi Arabia.; Tohary M; Department of Medical Genomics, MBC:75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.; Alfuraih M; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.; Alnafisah A; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.; AlHargan A; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Albader A; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Jaber H; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.; Almass R; Department of Medical Genomics, MBC:75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.; Albakheet A; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Alsheddi T; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; AlObeid E; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia.; Alrasheed MM; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.; Al-Odaib A; Research Administrative Operations Department, MBC: 03, Research and Innovation, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.; King Salman Center for Disability Research, Riyadh, Saudi Arabia.; AlZaidan H; Department of Medical Genomics, MBC:75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.; AlSayed MD; Department of Medical Genomics, MBC:75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.; Kaya N; NeuroGenetics Unit, Translational Genomics Department, MBC: 26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Saudi Arabia. nkaya@kfshrc.edu.sa.; College of Medicine, Alfaisal University, P.O. Box 50927, Riyadh, 11533, Saudi Arabia. nkaya@kfshrc.edu.sa.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Lütjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M.; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H.; van Ham, Tjakko J.; Issa, Mahmoud; Zaki, Maha S.; Gleeson, Joseph G.; Willemsen, Rob; Kaya, Namik; Arold, Stefan T.; Maroofian, Reza; Sanderson, Leslie E.; Barakat, Tahsin Stefan

Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. :1-16

AlHashem A; Department of Genetics and Metabolic, King Fahad Specilist Hospital, Dammam, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; AlQudairy H; Translational Genomics Department, MBC:26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Raed J; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Al Bulushi B; Department of Pediatric Emergency Medicine, King Fahad Medical City, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Faqeih E; Metabolic Genetics, Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.; Alotbi R; Department of Pediatric Emergency Medicine, King Fahad Medical City, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Al Mutairi F; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Salman Center for Disability Research, Riyadh, Saudi Arabia.; Alkuraya F; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Translational Genomics Department, MBC:26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Lifera Omics, Riyadh, Saudi Arabia.; Kaya N; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Translational Genomics Department, MBC:26, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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

Abrar H Allafi; Jarman S Alqhatani; Mashael S Alruwayshid; Abeer S Alshuniefi; Enas F Alarik; Fatmah Alreshidi; Ebtehaj S Almughais; Reem A AlQudairy

Journal of Family Medicine and Primary Care, Vol 10, Iss 4, Pp 1754-1758 (2021)

Al-Hassnan Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; AlDosary M; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; AlHargan A; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; AlQudairy H; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Almass R; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Alahmadi KO; Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; AlShahrani S; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; AlBakheet A; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Almuhaizea MA; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; National Health Service (NHS) Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals National Health Service (NHS) Foundation Trust, Newcastle upon Tyne, United Kingdom.; Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Kaya N; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101545006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-0640 (Print) Linking ISSN: 16640640 NLM ISO Abbreviation: Front Psychiatry Subsets: PubMed not MEDLINE

Altassan R; Department of Medical Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.; AlQudairy H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; AlJebreen S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; AlMuhaizea M; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.; Center for Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Al-Hindi H; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Pena-Guerra KA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Kingdom of Saudi Arabia.; Ghebeh H; Stem Cell and Tissue Re-Engineering Program Department, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Almzroua A; Stem Cell and Tissue Re-Engineering Program Department, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Albakheet A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; AlDosary M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Colak D; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Kingdom of Saudi Arabia.; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France.; Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.

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

Lace B; Riga East Clinical University Hospital Riga Latvia.; Institute of Clinical and Preventive Medicine, University of Latvia Riga Latvia.; Faqeih E; Section of Medical Genetics Children's Specialist Hospital, King Fahad Medical City Riyadh Saudi Arabia.; Kaya N; Translational Genomics Department MBC: 26, Centre for Genomic Medicine Riyadh Saudi Arabia.; Krumina Z; Department of Biology and Microbiology Riga Stradiņš University Riga Latvia.; Mayr JA; University Children's Hospital, Laboratory Salzburger Landeskliniken Universitaetsklinikum of the Paracelsus Medical University Salzburg Salzburg Austria.; Micule I; Department of Medical Genetics and Prenatal Diagnostics Children's University Hospital Riga Latvia.; Wright NT; Department of Chemistry and Biochemistry James Madison University Harrisonburg Virginia USA.; Achleitner MT; University Children's Hospital, Laboratory Salzburger Landeskliniken Universitaetsklinikum of the Paracelsus Medical University Salzburg Salzburg Austria.; AlQudairy H; Translational Genomics Department MBC: 26, Centre for Genomic Medicine Riyadh Saudi Arabia.; Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia.; Department of Genetics and Personalized Medicine Institute of Clinical Medicine, Faculty of Medicine, University of Tartu Tartu Estonia.; Stavusis J; Latvian Biomedical Research and Study Centre Riga Latvia.; Zayakin P; Latvian Biomedical Research and Study Centre Riga Latvia.; Inashkina I; Latvian Biomedical Research and Study Centre Riga Latvia.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

AlTassan R; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; College of Medicine, AlFaisal University, Riyadh 11533, Saudi Arabia.; AlQudairy H; Translational Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Saydo B; College of Medicine, AlFaisal University, Riyadh 11533, Saudi Arabia.; Translational Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Alammari A; Translational Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Londoño KJC; KAUST Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.; Ramzan K; Clinical Genomics Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Arold ST; KAUST Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.; Kaya N; College of Medicine, AlFaisal University, Riyadh 11533, Saudi Arabia.; Translational Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Calame, D.; Gandhi, M.; Levine, J.; Nhung, L.; Bakhtiari, S.; Boholega, S.; Kruer, M.; Pehlivan, D.; Meier-Abt, F.; Begemann, A.; Steindl, K.; Kaya, N.; Alqudairy, H.; Almuhaizea, M.; Cagiada, M.; Jhangiani, S.; Nguyen, L.; Karimiani, E.; Zaki, M.; Maroofian, R.; Posey, J.; Gibbs, R.; Lupski, J.

ANNALS OF NEUROLOGY; OCT 2025, 98 1p. Supplement: 35

AlBakheet A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; AlQudairy H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; Alkhalifah J; College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Almoaily S; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.; Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; Rahbeeni Z; Department of Medical Genetics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Albakheet A; Translational Genomics Department, Center for Genomic Medicine.; Almuallami D; Medical Genomics Department, Center for Genomic Medicine.; Almass R; Medical Genomics Department, Center for Genomic Medicine.; Qari A; Medical Genomics Department, Center for Genomic Medicine.; Kenana R; Translational Genomics Department, Center for Genomic Medicine.; AlQudairy H; Translational Genomics Department, Center for Genomic Medicine.; Huma R; Clinical Studies and Empirical Ethics Department, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Kingdom of Saudi Arabia.; Binomar H; Medical Genomics Department, Center for Genomic Medicine.; Wakil SM; Laboratory of Neurogenetics, National Institutes of Health, Rockville, Maryland, USA.; Alowain M; Medical Genomics Department, Center for Genomic Medicine.; Colak D; Molecular Oncology Department, KFSHRC, Riyadh, Kingdom of Saudi Arabia.; Kaya N; Translational Genomics Department, Center for Genomic Medicine.; AlSayed MD; Medical Genomics Department, Center for Genomic Medicine.; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.

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

Aldhalaan H; Neurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; AlBakheet A; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; AlRuways S; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Clinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh 11211, Saudi Arabia.; AlMutairi N; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Clinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh 11211, Saudi Arabia.; AlNakiyah M; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Clinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh 11211, Saudi Arabia.; AlGhofaili R; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Clinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh 11211, Saudi Arabia.; Cardona-Londoño KJ; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; Alahmadi KO; Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; AlQudairy H; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; AlRasheed MM; Clinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh 11211, Saudi Arabia.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; Kaya N; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

AlMuhaizea M; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Dabbagh O; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; AlQudairy H; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.; AlHargan A; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.; Alotaibi W; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Sami R; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; AlOtaibi R; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Ali MM; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; AlHindi H; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh 11211, Saudi Arabia.; Kaya N; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

AlTassan R; Department of Medical Genomics, Centre for Genomic Medicine, MBC: 75, P.O. Box 3354, King Faisal Specialist Hospital, and Research Centre, Riyadh 11211, Saudi Arabia.; College of Medicine, P.O. Box 50927, AlFaisal University, Riyadh 11533, Saudi Arabia.; AlQudairy H; Translational Genomic Department, Centre for Genomic Medicine, MBC: 03, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Alromayan R; Translational Genomic Department, Centre for Genomic Medicine, MBC: 03, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; College of Medicine, King Saud University, Riyadh 11451, Saudi Arabia.; Alfalah A; Department of Medical Genomics, Centre for Genomic Medicine, MBC: 75, P.O. Box 3354, King Faisal Specialist Hospital, and Research Centre, Riyadh 11211, Saudi Arabia.; AlHarbi OA; Department of Radiology, MBC: 28, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; González-Álvarez AC; Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; Arold ST; Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, F-34090 Montpellier, France.; Kaya N; Translational Genomic Department, Centre for Genomic Medicine, MBC: 03, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Mustafa A. Salih; Muddathir H. Hamad; Marco Savarese; Ibrahim A. Alorainy; Abdullah S. Al-Jarallah; Hisham Alkhalidi; Hanan AlQudairy; Anoud Albader; Amal Jahz Alotaibi; Maysoon Alsagob; Albandary Al-Bakheet; Dilek Colak; Bjarne Udd; Namik Kaya

Genetic Testing and Molecular Biomarkers. 25:757-764

Basmah Alomrani; Murid Javed; Hani S. H. Mohammed Ali; Salah E. M. Abo-Aba; Albandary AlBakheet; Hanan Alqudairy; Namik Kaya

Journal of Contemporary Medical Sciences. 8

AlQudairy H; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; AlDhalaan H; Department of Neurosciences, KFSHRC, Riyadh, Saudi Arabia.; AlRuways S; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; College of Pharmacy, King Saud University (KSU), Riyadh, Saudi Arabia.; AlMutairi N; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; College of Pharmacy, King Saud University (KSU), Riyadh, Saudi Arabia.; AlNakiyah M; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; College of Pharmacy, King Saud University (KSU), Riyadh, Saudi Arabia.; AlGhofaili R; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia.; College of Pharmacy, King Saud University (KSU), Riyadh, Saudi Arabia.; AlBakheet A; Department of Neurosciences, KFSHRC, Riyadh, Saudi Arabia.; Alomrani A; Dentistry Department, KFSHRC, Riyadh, Saudi Arabia.; Alharbi OA; Department of Neurosciences, KFSHRC, Riyadh, Saudi Arabia.; Tous E; Department of Neurosciences, KFSHRC, Riyadh, Saudi Arabia.; AlSayed M; Department of Medical Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia.; AlZaidan H; Department of Medical Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia.; AlRasheed MM; College of Pharmacy, King Saud University (KSU), Riyadh, Saudi Arabia.; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.; AlOdaib A; Training and Education Department, Research Centre, KFSHRC, Riyadh, Saudi Arabia.; Kaya N; Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Centre (KFSHRC), Riyadh, Saudi Arabia.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Aldosary M; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Alsagob M; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Center of Excellence for Biomedicine, Joint Centers for Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; AlQudairy H; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; González-Álvarez AC; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.; Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, F-34090 Montpellier, France.; Dababo MA; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Alharbi OA; Radiology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Almass R; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; AlBakheet A; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; AlSarar D; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Department of Botany and Microbiology, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.; Qari A; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Al-Ansari MM; Department of Botany and Microbiology, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Oláhová M; Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Al-Shahrani SA; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; AlSayed M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; College of Medicine, Alfaisal University, P.O. Box 50927, Riyadh 11533, Saudi Arabia.; Colak D; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Taylor RW; Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialized Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; AlOwain M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Kaya N; Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE