Results 221 to 230 of about 383,345 (315)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Remote fertility care: Are patients prepared to forego physician proximity in favor of accessibility? [PDF]

open access: yesJBRA Assist Reprod
Collado MD   +5 more
europepmc   +1 more source

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

More than intentions: Importance of motherhood predicts first but not subsequent births. [PDF]

open access: yesAdv Life Course Res
Greil AL   +3 more
europepmc   +1 more source

ASB3 ablation has no detectable effects on spermatogenesis and fertility in male mice [PDF]

open access: gold
Changtong Xu   +6 more
openalex   +1 more source

Home - About - Disclaimer - Privacy