Results 131 to 140 of about 1,671,195 (339)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

LGBTQ Psychology [PDF]

open access: yes, 2014
Peel, Elizabeth
core   +2 more sources

A Stage Model of Developing an Inclusive Community [PDF]

open access: yes
The Community Inclusion model described in this paper characterizes the stages through which a diverse group of people living within the same community develops into an inclusive community.
Billy E. Vaughn, Katarina Mlekov
core  

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

Maori & Psychology Research Unit annual report 2009 [PDF]

open access: yes, 2008
Annual report of the Maori and Psychology Research Unit (MPRU) 2009. The unit was established in August of 1997. The unit is designed to provide a catalyst and support network for enhancing research concerning the psychological needs, aspirations, and ...
Nikora, Linda Waimarie, Rua, Mohi
core   +3 more sources

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino   +8 more
wiley   +1 more source

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