Results 151 to 160 of about 788,741 (309)

Intertemporal Substitution in Maternal Labor Supply: Evidence using State School Entrance Age Laws [PDF]

open access: yes
In this paper, I propose a new framework to study the intertemporal labor supply hypothesis. I use an exogenous source of variation in maternal net earning opportunities, generated through school entrance age of children, to study intertemporal labor ...
Barua, Rashmi
core   +1 more source

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

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Do Maternal Investments in Human Capital Affect Childrens' Academic Achievement? [PDF]

open access: yes
Children of educated mothers fare better on a variety of educational outcomes. However, little research has been done on the effects of human capital investments undertaken by mothers with children at home. Such investments have a theoretically ambiguous
Lucie Schmidt, Quinn Moore
core  

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Associations among Family Environment, Attention, and School Readiness for At-Risk Children [PDF]

open access: yes
This study examined the developmental pathways from children’s family environment to school readiness within an at-risk sample (N = 1,701). Measures of the family environment (maternal parenting behaviors and maternal mental health) across early ...
Anne Martin   +2 more
core  

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill   +5 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

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