Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
Assessing emotional and behavioral problems in children with intellectual disability: revisiting the factor structure of the developmental behavior checklist. [PDF]
, 2002 Mariëlle C. Dekker +4 more
openalex +1 more source
Submission to the UN Day of General Discussion on the Right to Education for Persons with Disabilities, 15th April 2015 [PDF]
, 2015 This submission addresses the progress of inclusive education for children and young people with intellectual disabilities around the globe. As part of our submission we present data from a survey of disability organisations and experts (researchers and ...
Hamid, A, Kett, M, Scior, K
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Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter +5 more
wiley +1 more source
Kualitas Relasi Orang Tua-anak dan Resiliensi pada Orang Tua dengan Anak Disabilitas Intelektual [PDF]
, 2017 The quality of parent-children relationship and resilience among parents with children with intellectual disabilityPurposehis study was conducted to know the relation between quality of parent-child relationship and resilience among parents of children ...
Nurjannah, I. (Intansari) +2 more
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Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
Vitamin D and people with intellectual disability [PDF]
, 2008 Copyright © 2008 Royal Australian College of General Practitioners Copyright to Australian Family Physician. Reproduced with permission. Permission to reproduce must be sought from the publisher, The Royal Australian College of General Practitioners ...
Downs, J. +4 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad +8 more
wiley +1 more source
Intellectual and developmental disability and COVID-19 case-fatality trends: TriNetX analysis
Disability and Health Journal, 2020 M. Turk +3 more
semanticscholar +1 more source