부산대학교 도서관

Diana Gamba; Megan L. Vahsen; Toby M. Maxwell; Nikki Pirtel; Seth Romero; Justin J. Van Ee; Amanda Penn; Aayudh Das; Rotem Ben-Zeev; Owen Baughman; C. Sean Blaney; Randy Bodkins; Shanta Budha-Magar; Stella M. Copeland; Shannon L. Davis-Foust; Alvin Diamond; Ryan C. Donnelly; Peter W. Dunwiddie; David J. Ensing; Thomas A. Everest; Holly Hoitink; Martin C. Holdrege; Ruth A. Hufbauer; Sigitas Juzėnas; Jesse M. Kalwij; Ekaterina Kashirina; Sangtae Kim; Marcin Klisz; Alina Klyueva; Michel Langeveld; Samuel Lutfy; Daniel Martin; Christopher L. Merkord; John W. Morgan; Dávid U. Nagy; Jacqueline P. Ott; Radoslaw Puchalka; Lysandra A. Pyle; Leonid Rasran; Brian G. Rector; Christoph Rosche; Marina Sadykova; Robert K. Shriver; Alexandr Stanislavschi; Brian M. Starzomski; Rachel L. Stone; Kathryn G. Turner; Alexandra K. Urza; Acer VanWallendael; Carl-Adam Wegenschimmel; Justin Zweck; Cynthia S. Brown; Elizabeth A. Leger; Dana M. Blumenthal; Matthew J. Germino; Lauren M. Porensky; Mevin B. Hooten; Peter B. Adler; Jesse R. Lasky

Nature Communications, Vol 16, Iss 1, Pp 1-17 (2025)

Melikishvili G; MediClubGeorgia Medical Center, Tbilisi, Georgia.; Dulac O; AdPueriVitam, Antony, France.; Koniashvili O; MediClubGeorgia Medical Center, Tbilisi, Georgia.; Department of Pediatrics, Stony Brook Children's Hospital, Stony Brook, New York, USA.; Mamardashvili G; MediClubGeorgia Medical Center, Tbilisi, Georgia.; Tbilisi State Medical University, Tbilisi, Georgia.; Gachechiladze T; MediClubGeorgia Medical Center, Tbilisi, Georgia.; Tabatadze N; MediClubGeorgia Medical Center, Tbilisi, Georgia.; Melikishvili M; MediClubGeorgia Medical Center, Tbilisi, Georgia.; Gamirova R; Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Kazan Federal University, Kazan, Russia.; Tomenko T; Ural Federal University, Yekaterinburg, Russia.; Bakhtin I; Children's Regional Clinical Hospital, Ministry of Health of the Krasnodar Region, Krasnodar, Russia.; Freed A; SLC6A1 Connect, Dallas, Texas, USA.; Bossi E; Department of Biotechnology and Life Sciences, University of Insubria, Varese, Italy.; Centre for Neuroscience, University of Insubria, Varese, Italy.; Ben-Zeev B; Sheba Medical Center, Pediatric Neurology, Edmond and Lily Safra Children's Hospital, Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Kluger G; Department of Pediatrics, Institute of Rehabilitation, Transition and Palliation of Neurologically Ill Children, Member of ERN EpiCARE, Paracelsus Medical University, Salzburg, Austria.; Center for Pediatric Neurology, Neurorehabilitation and Epileptology, Schoen Clinic Vogtareuth, Vogtareuth, Germany.; Falace A; IRCCS 'Giannina Gaslini', Full Member of ERN Epicare, Genoa, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Kaila K; Molecular and Integrative Biosciences (MIBS) and Neuroscience Center (HiLIFE), University of Helsinki, Helsinki, Finland.; Striano P; IRCCS 'Giannina Gaslini', Full Member of ERN Epicare, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

Kolar, Stanislav, author

Oxford Art Online, 2021

Sagie, Shira; Lerman-Sagie, Tally; Maljevic, Snezana; Yosovich, Keren; Detert, Katja; Seo-Kyung Chung; Rees, Mark I.; Lerche, Holger; Lev, Dorit; Chung, Seo-Kyung

In: Brain: A Journal of Neurology; Jul2018; v.141 n.7, 1-e55. (4p)

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TUDP Study Group & Broad Center for Mendelian Genomics 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 601-617. https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 4, pp. 601-617

Mitchell, James W.; Sossi, Frieda; Miller, Isabel; Jaber, Paula Blancarte; Das-Gupta, Zofia; Fialho, Luz Sousa; Amos, Action; Austin, Joan K.; Badzik, Scott; Baker, Gus; Ben Zeev, Bruria; Bolton, Jeffrey; Chaplin, John, 1955; Cross, J. Helen; Chan, Derrick; Gericke, Christian A.; Husain, Aatif M.; Lally, Lorraine; Mbugua, Sharon; Megan, Cassidy; Mesa, Tomas; Nunez, Lilia; von Oertzen, Tim J.; Perucca, Emilio; Pullen, Angie; Ronen, Gabriel M.; Sajatovic, Martha; Singh, Mamta B.; Wilmshurst, Jo M.; Wollscheid, Leonie; Berg, Anne T.

EPILEPSIA.

Arkush L; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; van Woerden GM; Dept Neuroscience, Dept of Clinical Genetics and Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), Erasmus MC, Rotterdam, The Netherlands.; Ziv L; Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.; Marek-Yagel D; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Fonseca R; Dept Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; Brevé E; Dept Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; Barel O; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.; Shalva N; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Veber A; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Anikster Y; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Ben-Ami Raichman D; Department of Diagnostic Imaging, Sheba Medical Center, Ramat-Gan, Israel.; Musallam B; Pediatric Neurology Unit, Emek Medical Center, Afula, Israel.; Marcu S; Department of Pediatrics, Baruch Padeh Medical Center, Poriya, Israel.; Nissenkorn A; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.; Mandel H; Unit of Inherited Metabolic Disorders, Ziv Medical Center, Safed, Israel.; Institute of Human Genetics, Ziv Medical Center, Safed, Israel.; Kushner SA; Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.; SNF Center for Precision Psychiatry & Mental Health, Columbia University, New York, NY, USA.; Ben Zeev B; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Heimer G; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. galih.md@gmail.com.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. galih.md@gmail.com.

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

Poleg T; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Hadar N; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Heimer G; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Tel Aviv University School of Medicine, Tel-Aviv, Israel.; Dolgin V; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Aminov I; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Safran A; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Agam N; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Jean MM; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Freund O; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Ben-Zeev B; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Tel Aviv University School of Medicine, Tel-Aviv, Israel.; Birk OS; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel. obirk@bgu.ac.il.; Genetics Institute, Soroka University Medical Center, Be'er Sheva, Israel. obirk@bgu.ac.il.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel. obirk@bgu.ac.il.

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

den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; van de Wiel, L.J.M.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistienė, L.; Coon, H.; Délot, E.C.; Démurger, F.; Denommé-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.F.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kučinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P; Manwaring, L.; Matsumoto, N.; Mazel, B.; McWalter, K.; Meiner, V.; Mikati, M.A.; Miyatake, S.; Mizuguchi, T.; Moey, L.H.; Mohammed, S; Mor-Shaked, H.; Mountford, H.; Newbury-Ecob, R.; Odent, S.; Orec, L.; Osmond, M.; Palculict, T.B.; Parker, M.; Petersen, A.K.; Pfundt, R.P.; Preikšaitienė, E.; Radtke, K.; Ranza, E.; Rosenfeld, J.A.; Santiago-Sim, T.; Schwager, C.; Sinnema, M.; Snijders Blok, L.; Spillmann, R.C.; Stegmann, A.P.A.; Thiffault, I.; Tran, L.; Vaknin-Dembinsky, A.; Vedovato-Dos-Santos, J.H.; Schrier Vergano, S.A.; Vilain, E.; Vitobello, A.; Wagner, M.; Waheeb, A.; Willing, M.; Zuccarelli, B.; Kini, U.; Newbury, D.F.; Kleefstra, T.; Reymond, A.; Fisher, S.E.; Vissers, L.E.L.M.

American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2021, ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2021.01.007
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction' bioRxiv, pp. 1-24. https://doi.org/10.1101/2020.10.23.352278
American Journal of Human Genetics, vol 108, iss 2

Kaur S.; Van Bergen N. J.; Ben-Zeev B.; Leonardi E.; Tan T. Y.; Coman D.; Kamien B.; White S. M.; St John M.; Phelan D.; Rigbye K.; Lim S. C.; Torres M. C.; Marty M.; Savva E.; Zhao T.; Massey S.; Murgia A.; Gold W. A.; Christodoulou J.

Journal of Genetics and Genomics. 47:650-654

Heimer G; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel.; Pode-Shakked B; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Marek-Yagel D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Vernitsky H; Hematology Laboratory, Sheba Medical Center, Ramat Gan, Israel.; Tzadok M; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.; Eyal E; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.; Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Atzmon G; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Medicine, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Human Biology, Haifa University, Haifa, Israel.; Anikster Y; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.

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

Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk.; Ahmad A; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Shahanoor Hinzen J; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Lohse M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Bouazza-Arostegui B; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sun S; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Utesch T; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sommer JD; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Padmanarayana M; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Fischermanns K; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ranjan M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.; Stephan BO; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Brown NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Delatycki M; 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Hussein Y; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel.; Weisblum-Neuman H; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Ben Zeev B; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Stern S; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

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Berger TD; Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, Israel. talberger10@gmail.com.; Fogel Berger C; Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, Israel.; Gara S; Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, Israel.; Ben-Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Pediatric Neurology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Weiss B; Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Kriger O; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Safra Children Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Abramovich A; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Fratty IS; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Leshem E; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Tel Aviv University Sackler School of Medicine, Ramat Aviv, Israel.; Amit S; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Stein M; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Safra Children Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Tel Aviv University Sackler School of Medicine, Ramat Aviv, Israel.; Ben-Zeev B; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Safra Children Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Tel Aviv University Sackler School of Medicine, Ramat Aviv, Israel.; Via-Dorembus S; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Safra Children Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Hoffmann C; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Tel Aviv University Sackler School of Medicine, Ramat Aviv, Israel.; Rabinowicz S; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.; Safra Children Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.; Tel Aviv University Sackler School of Medicine, Ramat Aviv, Israel.; Weil M; From the Chaim Sheba Medical Center, Tel Hashomer, Israel.

Publisher: Williams & Wilkins Country of Publication: United States NLM ID: 8701858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0987 (Electronic) Linking ISSN: 08913668 NLM ISO Abbreviation: Pediatr Infect Dis J Subsets: MEDLINE

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Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
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