文献

J-GLOBAL ID：201102227137539483   整理番号：11A1254397

CDK19は両側先天性網膜ひだと小頭症と軽度精神遅滞の女性患者において破壊されている

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

著者 (23件)： MUKHOPADHYAY Arijit (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  MUKHOPADHYAY Arijit (Genomics and Molecular Medicine, Inst. of Genomics and Integrative Biology (CSIR), Mall Road, 110007, Delhi, IND) ,  KRAMER Jamie M. (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  KRAMER Jamie M. (Radboud Univ. Nijmegen, Nijmegen Centre for Molecular Life Sciences, Nijmegen, NLD) ,  KRAMER Jamie M. (Radboud Univ. Nijmegen, Donders Inst. for Brain, Cognition and Behaviour, Nijmegen, NLD) ,  MERKX Gerard (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  LUGTENBERG Dorien (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  SMEETS Dominique F. (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  OORTVELD Merel A. W. (Radboud Univ. Nijmegen, Nijmegen Centre for Molecular Life Sciences, Nijmegen, NLD) ,  OORTVELD Merel A. W. (Radboud Univ. Nijmegen, Donders Inst. for Brain, Cognition and Behaviour, Nijmegen, NLD) ,  BLOKLAND Ellen A. W. (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  AGRAWAL Jyoti (Genomics and Molecular Medicine, Inst. of Genomics and Integrative Biology (CSIR), Mall Road, 110007, Delhi, IND) ,  SCHENCK Annette (Radboud Univ. Nijmegen, Nijmegen Centre for Molecular Life Sciences, Nijmegen, NLD) ,  SCHENCK Annette (Radboud Univ. Nijmegen, Donders Inst. for Brain, Cognition and Behaviour, Nijmegen, NLD) ,  BOKHOVEN Hans (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  BOKHOVEN Hans (Radboud Univ. Nijmegen, Nijmegen Centre for Molecular Life Sciences, Nijmegen, NLD) ,  BOKHOVEN Hans (Radboud Univ. Nijmegen, Donders Inst. for Brain, Cognition and Behaviour, Nijmegen, NLD) ,  HUYS Erik (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  SCHOENMAKERS Eric F. (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  KESSEL Ad Geurts (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  NOUHUYS C. Erik (Canisius-Wilhelmina Ziekenhuis, Nijmegen, NLD) ,  CREMERS Frans P. M. (Radboud Univ. Nijmegen Medical Centre, Dep. of Human Genetics, PO Box 9101, 6500 HB, Nijmegen, NLD) ,  CREMERS Frans P. M. (Radboud Univ. Nijmegen, Nijmegen Centre for Molecular Life Sciences, Nijmegen, NLD)
資料名： Human Genetics  (Human Genetics)
巻： 128  号： 3  ページ： 281-291  発行年： 2010年09月 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  資料種別： 逐次刊行物 (A)
発行国： ドイツ (DEU)  言語： 英語 (EN)

タイトルに関連する用語 (7件)： CDK19 ,  網膜 ,  ひだ ,  小頭症 ,  軽度精神遅滞 ,  女性患者 ,  破壊