Results 131 to 140 of about 640,589 (301)

“Will you be there for me?” Social support from family and friends during cold case sexual assault prosecutions

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract If sexual assault survivors report the assault to the criminal legal system, they often need informal support from family and friends throughout the long and frequently retraumatizing process of investigation and prosecution. This study is part of a long‐term community‐based participatory action research project in a predominately Black ...
Rebecca Campbell   +4 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Family and gender still matter: the heterogeneity of returns to education in Germany [PDF]

open access: yes
Using information on family background, we estimate returns to education, allowing for the heterogeneity of returns. In order to control for the unobserved heterogeneity shared by family members, we construct a siblings sample and employ family fixed ...
Schnabel, Isabel, Schnabel, Reinhold
core  

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Saviour Sibling

open access: yesIndian Journal of Medical and Paediatric Oncology, 2020
openaire   +2 more sources

The mechanics of shuffle products and their siblings

open access: yes, 2015
We carry on the investigation initiated in [15] : we describe new shuffle products coming from some special functions and group them, along with other products encountered in the literature, in a class of products, which we name $\varphi$-shuffle ...
Duchamp, Gérard H. E.   +3 more
core   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales   +13 more
wiley   +1 more source

Labor augmentation during birth and later cognitive ability in young adulthood

open access: yesClinical Epidemiology, 2018
Lonny Stokholm,1 Nicole M Talge,2 Gunhild Tidemann Christensen,3–5 Mette Juhl,6 Laust Hvas Mortensen,1,7Katrine Strandberg-Larsen1 1Section of Epidemiology, Department of Public Health, University of Copenhagen, Copenhagen, Denmark; 2Department of ...
Stokholm L   +5 more
doaj  

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