Results 161 to 170 of about 578,006 (359)

A community‐driven approach to address substance use and create a Great Plains American Indian addiction and recovery research agenda

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Substance use, specifically opioid and methamphetamine use, is of increasing concern among American Indian (AI) populations in the Great Plains. This community‐driven participatory study investigated the impacts of substance use and community‐defined needs in treating addiction.
Brynn Luger   +8 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Capacidade materna de cuidar e desnutrição infantil

open access: yesRevista de Saúde Pública
OBJETIVOS: Identificar e medir a magnitude do risco de desnutrição associada a fatores determinantes da capacidade materna de cuidado infantil: estrutura familiar, escolaridade, trabalho, saúde física e saúde mental maternas.
Maria Antonieta de BL Carvalhaes   +1 more
doaj  

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Maternal prenatal substance use and behavior problems among children in the U.S. [PDF]

open access: yes
Prenatal exposure to smoking and alcohol-use is found to be correlated with various adverse consequences for children, including behavior problems. However, it is not clear whether this relationship is an artifact of underlying confounding factors that ...
Sen, Bisakha, Swaminathan, Shailender
core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

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