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J-GLOBAL ID：201302223816067867   整理番号：13A0019350

瞼裂狭小眼けん下垂知的障害症候群におけるユビキチンリガーゼUBE3B欠損

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

著者 (40件)： BASEL-VANAGAITE Lina (Raphael Recanati Genetics Inst., Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, ISR) ,  BASEL-VANAGAITE Lina (Sackler Fac. of Medicine, Tel Aviv Univ., Tel Aviv 69978, ISR) ,  BASEL-VANAGAITE Lina (Felsenstein Medical Res. Center, Rabin Medical Center, Petah Tikva 49100, ISR) ,  BASEL-VANAGAITE Lina (Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petah Tikva 49202, ISR) ,  DALLAPICCOLA Bruno (Bambino Gesu Children’s Hospital, IRCCS, 00165 Rome, ITA) ,  RAMIREZ-SOLIS Ramiro (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  SEGREF Alexandra (Inst. for Genetics, Univ. of Cologne, 50674 Cologne, DEU) ,  SEGREF Alexandra (Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Univ. of Cologne ...) ,  THIELE Holger (Cologne Center for Genomics (CCG), Univ. of Cologne, 50931 Cologne, DEU) ,  EDWARDS Andrew (Wellcome Trust Centre for Human Genetics, Univ. of Oxford, Oxford OX3 7BN, GBR) ,  ARENDS Mark J. (Dep. of Pathology, Univ. of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, GBR) ,  MIRO Xavier (Inst. of Molecular Psychiatry, Univ. of Bonn, 53127 Bonn, DEU) ,  WHITE Jacqueline K. (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  DESIR Julie (Dep. of Medical Genetics, Hopital Erasme, 1070 Brussels, BEL) ,  ABRAMOWICZ Marc (Dep. of Medical Genetics, Hopital Erasme, 1070 Brussels, BEL) ,  ABRAMOWICZ Marc (Inst. de Rech. Interdisciplinaire en Biologie Humaine et Moleculaire (IRIBHM), Univ. Libre de Bruxelles (ULB), 1070 ...) ,  DENTICI Maria Lisa (Bambino Gesu Children’s Hospital, IRCCS, 00165 Rome, ITA) ,  LEPRI Francesca (Bambino Gesu Children’s Hospital, IRCCS, 00165 Rome, ITA) ,  HOFMANN Kay (Inst. for Genetics, Univ. of Cologne, 50674 Cologne, DEU) ,  HOFMANN Kay (Bioinformatics Group, Miltenyi Biotec GmbH, 51429 Bergisch-Gladbach, DEU) ,  HAR-ZAHAV Adi (Sackler Fac. of Medicine, Tel Aviv Univ., Tel Aviv 69978, ISR) ,  RYDER Edward (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  KARP Natasha A. (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  ESTABEL Jeanne (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  GERDIN Anna-karin B. (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  PODRINI Christine (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  INGHAM Neil J. (Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, GBR) ,  ALTMUELLER Janine (Cologne Center for Genomics (CCG), Univ. of Cologne, 50931 Cologne, DEU) ,  NUERNBERG Gudrun (Cologne Center for Genomics (CCG), Univ. of Cologne, 50931 Cologne, DEU) ,  FROMMOLT Peter (Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Univ. of Cologne ...) ,  FROMMOLT Peter (Cologne Center for Genomics (CCG), Univ. of Cologne, 50931 Cologne, DEU) ,  ABDELHAK Sonia (Lab. of Biomedical Genomics and Oncogenetics, Inst. Pasteur de Tunis, 1002 Tunis, Tunisia) ,  PASMANIK-CHOR Metsada (Bioinformatics Unit, G.S.W. Fac. of Life Sciences, Tel Aviv Univ., Tel Aviv 69978, ISR) ,  KONEN Osnat (Sackler Fac. of Medicine, Tel Aviv Univ., Tel Aviv 69978, ISR) ,  KONEN Osnat (Imaging Dep., Schneider Children’s Medical Center of Israel, Petah Tikva 49202, ISR) ,  KELLEY Richard I. (Kennedy Krieger Inst., Baltimore, MD 21205, USA) ,  SHOHAT Mordechai (Raphael Recanati Genetics Inst., Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, ISR) ,  SHOHAT Mordechai (Sackler Fac. of Medicine, Tel Aviv Univ., Tel Aviv 69978, ISR) ,  SHOHAT Mordechai (Felsenstein Medical Res. Center, Rabin Medical Center, Petah Tikva 49100, ISR) ,  NUERNBERG Peter (Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Univ. of Cologne ...)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 91  号： 6  ページ： 998-1010  発行年： 2012年12月07日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (6件)： 瞼裂狭小 ,  眼けん下垂 ,  知的障害 ,  症候群 ,  ユビキチンリガーゼ ,  欠損