Results 191 to 200 of about 501,307 (362)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican 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

Disability support services: services provided under the National Disability Agreement 2011-12 [PDF]

open access: yes
In 2011-12, Australian governments spent $6.9 billion on disability support services under the National Disability Agreement, accessed by more than 317,600 people.Summary:Many people with disability are able to live independently and participate in ...

core  

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

Thriving for Adolescents With Intellectual Disability: A Photo-Elicitation Qualitative Study. [PDF]

open access: yesJ Appl Res Intellect Disabil
Mills AS   +6 more
europepmc   +1 more source

The Disclosure Process and its Impact on South Asian Families with a Child with Severe Intellectual Disabilities [PDF]

open access: bronze, 2003
Chris Hatton   +4 more
openalex   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses   +21 more
wiley   +1 more source

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