Results 121 to 130 of about 323,704 (343)

Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age [PDF]

open access: green, 2023
yunyun liu   +16 more
openalex   +1 more source

Reviewing disease burden among rural Indian women [PDF]

open access: yes, 2004
The disease burden of rural Indian women is reviewed by utilizing the data from the 'Survey of Causes of Death (rural)' annual reports of Registrar General of India supplemented with National family health survey (NFHS-II).
Agnihotram V, Dr. Ramanakumar
core  

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

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe   +22 more
wiley   +1 more source

Advanced maternal age and pregnancy.

open access: yesWest African journal of medicine, 1996
Advanced maternal age pregnancies are still prevalent due to ignorance and lack of effective contraception. These pregnancies have a poorer maternal and perinatal outcome.
S A, Obed, J O, Armah, J B, Wilson
openaire   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 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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