Results 141 to 150 of about 55,587 (276)

STILLBORN

open access: yesAJN, American Journal of Nursing, 1972
openaire   +2 more sources

Floral traits and hermaphrodite abundance shape female advantage in a gynodioecious plant

open access: yesAmerican Journal of Botany, EarlyView.
Abstract Premise Gynodioecy is maintained through female advantage in seed fitness that depends on the sex ratio of a population. We hypothesized that females of Silene acaulis would exhibit floral traits associated with elevated outcross pollination and that sex ratio would impact pollen limitation and inbreeding depression such that female advantage ...
Emma K. Chandler, Megan L. DeMarche
wiley   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer   +4 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha   +6 more
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio   +4 more
wiley   +1 more source

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