부산대학교 도서관

Rips, Jonathan; Halstuk, Orli; Fuchs, Adina; Lang, Ziv; Sido, Tal; Gershon-Naamat, Shiri; Abu-Libdeh, Bassam; Edvardson, Simon; Salah, Somaya; Breuer, Oded; Hadhud, Mohamad; Eden, Sharon; Simon, Itamar; Slae, Mordechai; Damseh, Nadirah S.; Abu-Libdeh, Abdulsalam; Eskin-Schwartz, Marina; Birk, Ohad S.; Varga, Julia; Schueler-Furman, Ora; Rosenbluh, Chaggai; Elpeleg, Orly; Yanovsky-Dagan, Shira; Mor-Shaked, Hagar; Harel, Tamar

In Genetics in Medicine April 2024 26(4)

Koch, Intisar; Slovik, Maya; Zhang, Yuling; Liu, Bingyu; Rennie, Martin; Konz, Emily; Cogne, Benjamin; Daana, Muhannad; Davids, Laura; Diets, Illja J.; Gold, Nina B.; Holtz, Alexander M.; Isidor, Bertrand; Mor-Shaked, Hagar; Fresneda, Juanita Neira; Niederhoffer, Karen Y.; Nizon, Mathilde; Pfundt, Rolph; Simon, Meh; Stegmann, Apa; Sacoto, Maria J. Guillen; Wevers, Marijke; Barakat, Tahsin Stefan; Yanovsky-Dagan, Shira; Atanassov, Boyko S.; Toth, Rachel; Gao, Chengjiang; Bustos, Francisco; Harel, Tamar

LIFE SCIENCE ALLIANCE; MAR 2024, 7 3, pe202302258 14p.

Handal T; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Juster S; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Abu Diab M; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Yanovsky-Dagan S; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Zahdeh F; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; Aviel U; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Sarel-Gallily R; The Azrieli Center for Stem Cells and Genetic Research, Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, 91904, Israel.; Michael S; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Bnaya E; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel.; Sebban S; Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, Jerusalem, 91120, Israel.; Buganim Y; Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, Jerusalem, 91120, Israel.; Drier Y; The Lautenberg Center for Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University, Jerusalem, Israel.; Mouly V; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013, Paris, France.; Kubicek S; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14, AKH BT 25.3, 1090, Vienna, Austria.; van den Broek WJAA; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Wansink DG; Department of Medical BioSciences, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands. rick.wansink@radboudumc.nl.; Epsztejn-Litman S; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel.; Eiges R; Stem Cell Research Laboratory, Medical Genetics Institute, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, 91031, Israel. rachela@szmc.org.il.; The Hebrew University School of Medicine, Jerusalem, 91120, Israel. rachela@szmc.org.il.

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

Cahn A; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Diabetes Unit, Department of Endocrinology and Metabolism, Hadassah Medical Center, Jerusalem, Israel.; Mor-Shaked H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Rosenberg-Fogler H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Pollack R; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Diabetes Unit, Department of Endocrinology and Metabolism, Hadassah Medical Center, Jerusalem, Israel.; Tolhuis B; Pacific Bioscience, London, UK.; Sharma G; Ocean Genomics, Pittsburgh, PA, USA.; Schultz E; Ocean Genomics, Pittsburgh, PA, USA.; Yanovsky-Dagan S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Harel T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. tamarhe@hadassah.org.il.; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel. tamarhe@hadassah.org.il.

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

Koch I; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA.; Slovik M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Zhang Y; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China.; Liu B; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China.; Rennie M; https://ror.org/00vtgdb53 School of Molecular Biosciences, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.; Konz E; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA.; Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Daana M; Child Development Centers, Clalit Health Care Services, Jerusalem, Israel.; Davids L; Department of Neurosciences, Children's Healthcare of Atlanta, Atlanta, GA, USA.; Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Gold NB; Massachusetts General Hospital for Children, Boston, MA, USA.; https://ror.org/03wevmz92 Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Holtz AM; https://ror.org/03wevmz92 Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Mor-Shaked H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Neira Fresneda J; https://ror.org/03czfpz43 Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Niederhoffer KY; https://ror.org/0160cpw27 Department of Medical Genetics, University of Alberta, Edmonton, Canada.; Nizon M; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Simon M; https://ror.org/0575yy874 Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.; Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Wevers M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Yanovsky-Dagan S; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Atanassov BS; Department of Pharmacology and Therapeutics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.; Toth R; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.; Gao C; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China.; Bustos F; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA Francisco.bustos@sanfordhealth.org.; Department of Pediatrics, University of South Dakota, Sioux Falls, SD, USA.; Harel T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel tamarhe@hadassah.org.il.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE

Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S.; Maqbool, Shazia; Anwa, Najwa; Ruiz-Pérez, Victor L.; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry

Journal of Medical Genetics; Aug2023, Vol. 60 Issue 8, p791-796, 6p

Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S.; Maqbool, Shazia; Anwa, Najwa; Ruiz-Perez, Victor L.; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry

JOURNAL OF MEDICAL GENETICS; DEC 29 2022, 6p.

Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Paz-Ebstein E; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Yanovsky-Dagan S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Lai A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Gilboa T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Pediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel.; Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, USA.; Shao DD; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, 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

Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S; Maqbool, Shazia; Anwa, Najwa; Ruiz-Pérez, Victor L; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry

Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 8 p791-796, 6p

Yanovsky-Dagan S; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.; Hebrew University Medical School, Jerusalem, Israel.; Cohen E; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.; Hebrew University Medical School, Jerusalem, Israel.; Megalli P; Inserm UMR 974, Sorbonne Université, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.; Altarescu G; Hebrew University Medical School, Jerusalem, Israel.; Zohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.; Schonberger O; IVF Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Eldar-Geva T; Hebrew University Medical School, Jerusalem, Israel.; IVF Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Epsztejn-Litman S; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.; Eiges R; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel. rachela@szmc.org.il.; Hebrew University Medical School, Jerusalem, Israel. rachela@szmc.org.il.

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