Results 131 to 140 of about 3,930 (255)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
Performing Femininity: Frames, Agency and Disability Politics [PDF]
, 2000 Produced by The Center on Disability Studies, University of Hawai'i at Manoa, Honolulu, Hawai'i and The School of Social Sciences, The University of Texas at Dallas, Richardson, Texas for The Society for Disability ...
Kuppers, Petra
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
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
Social factors influencing the education of physiotherapists around disability in Bangladesh [PDF]
, 2011 Background Professions such as physiotherapy are challenged to respond to changes occurring internationally in approaches to disability. Correctly theorising disability enables appropriate responses to emerge, which address issues important to disabled ...
Commons, Philomena
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Discourses of disability sport: Experiences of elite male and female athletes in Britain and Taiwan
, 2005 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Disability sport has been a relatively under-researched area within the fields of both sport sociology and disability studies, in particular regarding ...
Huang, Chin-Ju
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Powers of Classification: Politics and Biology in Understandings of Intellectual Disability [PDF]
, 2015 : Intellectual disability is commonly understood as a biological state of functioning that determines the cognitive capabilities of the individuals labeled so.
Niklas Altermark +2 more
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