Results 171 to 180 of about 163,537 (314)

Equine Abortion and Premature Birth Associated with Cellulosimicrobium Cellulans Infection [PDF]

open access: bronze, 2004
David C. Bolin   +11 more
openalex   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi   +7 more
wiley   +1 more source

Time-resolved transcriptomic profiling of the developing rabbit's lungs: impact of premature birth and implications for modelling bronchopulmonary dysplasia. [PDF]

open access: yesRespir Res, 2023
Storti M   +20 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

The Ability of Doppler Uterine Artery Ultrasound to Predict Premature Birth. [PDF]

open access: yesCurr Health Sci J, 2022
Camen IV   +9 more
europepmc   +1 more source

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