文献

J-GLOBAL ID：201902221266026884   整理番号：19S0476949

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

著者 (38件)： Thijssen, Peter E. (Department of Human Genetics, Leiden University Medical Center) ,  Wang, Jun (Department of Human Genetics, Leiden University Medical Center) ,  Wang, Jun (Institutes of Biology and Medical Sciences, Soochow University) ,  Sun, Yu (Department of Human Genetics, Leiden University Medical Center) ,  Sun, Yu (Shanghai Institute for Pediatric Research, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine) ,  Lemmers, Richard J.L.F. (Department of Human Genetics, Leiden University Medical Center) ,  De Greef, Jessica C. (Department of Human Genetics, Leiden University Medical Center) ,  Van Der Maarel, Silvère M. (Department of Human Genetics, Leiden University Medical Center) ,  Ito, Yuya (Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University) ,  Nitta, Hirohisa (Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University) ,  Unoki, Motoko (Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University) ,  Sasaki, Hiroyuki (Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University) ,  Grillo, Giacomo (CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot) ,  Velasco, Guillaume (CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot) ,  Francastel, Claire (CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot) ,  Yoshihara, Minako (Division of Bioinformatics, Department of Multi-scale Research Center for Medical Science, Medical Institute of Bioregulation, Kyushu University) ,  Suyama, Mikita (Division of Bioinformatics, Department of Multi-scale Research Center for Medical Science, Medical Institute of Bioregulation, Kyushu University) ,  Gennery, Andrew (Department of Paediatric Immunology, Newcastle Upon Tyne Hospital, NHS Foundation Trust) ,  Gennery, Andrew (Institute of Cellular Medicine, Newcastle University) ,  Picco, Paolo (Division of Pediatrics and Pediatric Rheumatology, G. Gaslini Scientific Institute) ,  Kloeckener-Gruissem, Barbara (Institute of Medical Molecular Genetics, University of Zurich) ,  Kloeckener-Gruissem, Barbara (Department of Biology, ETH Zurich) ,  Güngör, Tayfun (Department of Oncology, University Children's Hospital) ,  Reisli, Ismail (Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty) ,  Picard, Capucine (Centre de Référence Déficits Immunitaires Héréditaires, AP-HP) ,  Picard, Capucine (Centre d'Etude des Déficits Immunitaires, Hôpital Universitaire Necker-Enfants Malades, AP-HP) ,  Picard, Capucine (Laboratoire de Génétique Humaine des Maladies Infectieuses, Inserm) ,  Picard, Capucine (Université Paris Descartes, Institut Imagine, Sorbonne Paris) ,  Picard, Capucine (Unité d'Immunologie et d'Hématologie Pédiatrique, Hôpital Necker-Enfants Malades) ,  Picard, Capucine (Inserm UMR 768) ,  Kebaili, Kamila (Centre de Référence Déficits Immunitaires Héréditaires, Institut d'Hématologie et d'Oncologie Pédiatrique, CHU de Lyon) ,  Roquelaure, Bertrand (Service d'Hepato-gastro-enterologie et Nutrition, Endocrinologie et Nephrologie Pediatriques, Hôpital de la Timone, CHU Marseille) ,  Iwai, Tsuyako (Department of Pediatric Hematology and Oncology, Shikoku Medical Center for Children and Adults) ,  Kondo, Ikuko (Department of Pediatrics, Ooida Hospital) ,  Kubota, Takeo (Department of Epigenetic Medicine, Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi) ,  Van Ostaijen-Ten Dam, Monique M. (Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Center) ,  Van Tol, Maarten J.D. (Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Center) ,  Weemaes, Corry (Department of Pediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Center)
資料名： Nature Communications
巻： 6  発行年： 2015年 
JST資料番号： SCOPUS  ISSN： 2041-1723 
発行国： イギリス (GBR)  言語： 英語 (EN)