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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

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第一作者: Xenia,Latypova
第一单位: Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France.
作者单位: Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France. [1] Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France. [2] Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France. [3] Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. [4] Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Department of Biological Sciences, National University of Medical Sciences, 46000 Rawalpindi, Pakistan. [5] Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain. [6] Department of Pediatrics, Ochsner Clinic, New Orleans, LA 70128, USA. [7] Centre de Génétique Humaine, IPG, 6041 Gosselies, Belgium. [8] Service de Neuropédiatrie, Clinique Saint Elizabeth, 5000 Namur, Belgium. [9] Service de Génétique Médicale, Hôpital Robert Debré, 75019 Paris, France. [10] Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [11] Service de Cytogénétique, Hôpital Robert Debré, 75019 Paris, France. [12] Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands. [13] Northern Genetics Service, Institute of Genetic Medicine, Newcastle Upon Tyne NE1 3BZ, UK. [14] Kingston General Hospital Research Institute, 76 Stuart Street, Kingston, ON K7L 2V7, Canada. [15] Clinical Genetics, Dell Children's Medical Group, Austin, TX 78731, USA. [16] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. [17] GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA. [18] Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC 29646, USA. [19] Sainte-Justine Hospital, 3175, Cote-Sainte-Catherine, Montreal, QC, Canada. [20] Etablissement Français du Sang, 44000 Nantes, France. [21] Etablissement Français du Sang, 44000 Nantes, France; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, 44000 Nantes, France; LabEx IGO, Nantes 44000, France. [22] Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada. [23] Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France. [24] Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. [25] Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France. Electronic address: jeremie.poschmann@univ-nantes.fr. [26] Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: eridavis@luriechildrens.org. [27] Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr. [28]
DOI 10.1016/j.ajhg.2021.03.017
PMID 33811806
发布时间 2021-11-07
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American journal of human genetics

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