Results 151 to 160 of about 784,997 (355)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Reflexively Conducting Research with Ethnically Diverse Children with Disabilities [PDF]
, 2016 This reflexive paper explores the process of engaging ethnically diverse children with disabilities within participatory and narrative research concerning their school life via a multi-method qualitative approach. It contemplates the use of participatory
Ajodhia-Andrews, Amanda
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
YouthAdverse childhood experiences (ACEs) are negative but preventable experiences within family and social environments. Originally focused on abuse and household dysfunction, ACE indicators now include many social factors, such as social determinants of ...
Gregor Wolbring, Parneet Dhindsa
doaj +1 more source
When you lack the word : stories from parents of children with visual and other disabilities : a thesis presented in partial fulfilment of the requirements for the degree of Master of Philosophy in Social Policy and Social Work at Massey University [PDF]
, 1996 This document, submitted as a Master's thesis, describes a research project carried out during 1994 and 1995. The study arose out of my multiple identity as a parent of two children with a visual disability, as a professional working in the field, and as
Kerr, Alison Lassie
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
Focus on the Right of Children with Disabilities to Live in the Community [PDF]
, 2006 [Excerpt] The European Coalition for Community Living believes that all children have the right to live in the community and be included in society. However, this is far from reality for many children with disabilities.
European Coalition for Community Living
core +1 more source
Schizophrenia Genetics Modulates Clinical Depressive Features
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti +13 more
wiley +1 more source
Children with Disabilities, Eighth Edition
Journal of Developmental & Behavioral Pediatrics, 2021 Megan, Burke, Neelkamal, Soares
openaire +3 more sources
Do Sufficient Recreational Programs for Disabled Children Exist in Monroe and Ontario Counties? [PDF]
, 2013 We live in a country where people, including the handicapped are guaranteed many rights and freedoms. The Americans with Disabilities Act (1990) ensures that equal opportunities are provided to people with disabilities.
Bauerlein, Lauren A.
core +1 more source