Results 281 to 290 of about 975,602 (330)

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

Determinants of newborn birth size in Somaliland: an ordinal logistic regression analysis. [PDF]

open access: yesArch Public Health
Ibrahim AO   +8 more
europepmc   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

An influenza HA mRNA-LNP vaccine induces potent responses in newborn nonhuman primates that enhance protection from challenge. [PDF]

open access: yesNPJ Vaccines
Page CL   +7 more
europepmc   +1 more source

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

open access: yesHealth Technol Assess
Freeman K   +20 more
europepmc   +1 more source

What Is My Role? A Qualitative Study of Labor, Birth, and Postpartum Experiences of Partners. [PDF]

open access: yesNurs Health Sci
Pereda-Goikoetxea B   +4 more
europepmc   +1 more source

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