Functional analysis of novel<i>DEAF1</i>variants identified through clinical exome sequencing expands<i>DEAF1</i>-associated neurodevelopmental disorder (DAND) phenotype
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- Li Chen
- Department of Cellular and Genetic Medicine, School of Basic Medical Sciences; Fudan University; Shanghai China
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- Philip J. Jensik
- Department of Physiology; Southern Illinois University School of Medicine; Carbondale Illinois
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- Joseph T. Alaimo
- Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas
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- Magdalena Walkiewicz
- Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas
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- Seth Berger
- Medical Genetics Branch; National Human Genome Research Institute, National Institutes of Health; Bethesda Maryland
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- Elizabeth Roeder
- Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas
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- Eissa A. Faqeih
- Department of Pediatrics Subspecialty, Children's Specialist Hospital; King Fahad Medical City; Riyadh Saudi Arabia
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- Jonathan A. Bernstein
- Department of Pediatrics; Stanford University School of Medicine; Stanford California
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- Ann C. M. Smith
- Office of the Clinical Director; National Human Genome Research Institute, National Institutes of Health; Bethesda Maryland
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- Sureni V. Mullegama
- Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas
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- David W. Saffen
- Department of Cellular and Genetic Medicine, School of Basic Medical Sciences; Fudan University; Shanghai China
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- Sarah H. Elsea
- Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas
収録刊行物
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- Human Mutation
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Human Mutation 38 (12), 1774-1785, 2017-09-23
Hindawi Limited