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Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 372 - 378
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 434 - 439
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The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
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Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 318 - 325
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3104 - 3108
We present a 4‐year‐old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring... 
nicolaides baraitser syndrome | ARID2 | coffin‐siris syndrome | intellectual disability | SWI/SNF complex | coffin-siris syndrome | SWI | SPECIFICITY | GENOTYPE | COMPONENTS | PHENOTYPE | SUBUNITS | FAMILY PROTEINS | SNF complex | CHROMATIN-REMODELING COMPLEX | GENES | GENETICS & HEREDITY | MUTATIONS | Abnormalities, Multiple - pathology | Motor Disorders - physiopathology | Face - abnormalities | Humans | Hypotrichosis - genetics | Child, Preschool | Foot Deformities, Congenital - genetics | Micrognathism - pathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Female | Abnormalities, Multiple - genetics | Foot Deformities, Congenital - pathology | Genetic Predisposition to Disease | Motor Disorders - genetics | Face - pathology | Micrognathism - genetics | Intellectual Disability - pathology | Foot Deformities, Congenital - diagnosis | Neck - abnormalities | Transcription Factors - genetics | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - physiopathology | Hand Deformities, Congenital - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Neck - pathology | Hypotrichosis - pathology | Hand Deformities, Congenital - pathology | Clonal deletion | Gene deletion | Intellectual disabilities | Coffin-Siris syndrome
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