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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Journal: American Journal of Human Genetics

Published: 2019-09-30

DOI: 10.1016/j.ajhg.2019.09.009

Affiliations: 22

Authors: 37

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Institutions Share
Laboratory of Genome Structure and Function, UTokyo, Japan 0.14
Department of Biology and Medical Genetics, CU, Czech Republic 0.11
Division of Human Genetics, CHOP, United States of America (USA) 0.08
Department of Pediatrics, CHOP, United States of America (USA) 0.08
Division of Medical Genetics, Nagano Children's Hospital, Japan 0.08
Center for Applied Genomics (CAG), CHOP, United States of America (USA) 0.07
Faculty / Graduate School of Medicine, YCU, Japan 0.05
Institute for Clinical Genetics, TU Dresden, Germany 0.05
Department of Genetics, Penn, United States of America (USA) 0.05
Department of Biomedical Sciences (BMS), SNU, South Korea 0.04
Department of Pediatrics, SNU, South Korea 0.04
Department of Pediatrics, Penn, United States of America (USA) 0.03
Birmingham Health Partners (BHP), United Kingdom (UK) 0.03
Department of Medical Genetics, Osaka Women's and Children's Hospital, Japan 0.03
Aichi Developmental Disability Center Central Hospital, Japan 0.03
University Hospital Trencin, Slovakia 0.03
University Hospital Bologna, UNIBO, Italy 0.03
Aquatic Zebrafish Core, CHOP, United States of America (USA) 0.03
Department of Pathology and Laboratory Medicine, CHOP, United States of America (USA) 0.01
Institute for Quantitative Biosciences (IQB), UTokyo, Japan 0.01

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