Results 121 to 130 of about 65,615,992 (302)
Ohio Governors Council on People with Disabilities annual report
, 2004 Electronic coverage as of June 6, 2007: 2002/2003; 2004-; Description based on: 2002/2003; title from PDF cover (viewed on June 6, 2007).; Vol. for 2001/2003 available in HTML, PDF, and Microsoft Word versions; v.
Ohio. Governors Council on People with Disabilities. +1 more
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Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
, 2017 Monthly; April 2017-; Text (HTML format)
Opportunities for Ohioans with Disabilities (Agency : Ohio)
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
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
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Children with disability grow into adults with a disability [PDF]
Developmental Medicine & Child Neurology, 2008 openaire +2 more sources
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Texas Laws Passed By The 1995 Texas Legislature Affecting People With Disabilities
, 1995 This describes about various things faced by people with disabilities due to the laws passed by the Texas ...
Texas Governor's Committee on People with Disabilities
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source