Results 201 to 210 of about 111,824 (315)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Congenital Gastrointestinal Malformations in a Romanian Tertiary Centre (2020-2024): A Retrospective Cohort Study of Diagnosis, Distribution, and Outcomes. [PDF]

open access: yesDiagnostics (Basel)
Stratulat-Chiriac I   +10 more
europepmc   +1 more source

Utility of Shear Wave Elastography for Differentiating Biliary Atresia From Infantile Hepatitis Syndrome

open access: yesJournal of ultrasound in medicine, 2016
Xiaoman Wang   +6 more
semanticscholar   +1 more source

Microstructural Evidence for Early Childhood Stress in a Community in Transition at Hisban, Jordan

open access: yesAmerican Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.
ABSTRACT Objectives Identification of stress across infancy and childhood can reflect maternal and environmental influences on early life health. In the 19th century community of Hisban, many infants died before 2 years of age with evidence of metabolic disease, including rickets, that likely ties with maternal health.
Kristina Cockerille   +4 more
wiley   +1 more source

A strategy to identify biliary atresia efficiently: A perspective from a Texas center. [PDF]

open access: yesWorld J Pediatr Surg
Harpavat S   +5 more
europepmc   +1 more source

Health Care Utilization in Adults With Congenital Heart Disease: Population‐Based Findings

open access: yesBirth Defects Research, Volume 118, Issue 6, June 2026.
ABSTRACT Background Population‐based data on healthcare utilization in adults with congenital heart disease (CHD) are limited. We examined utilization patterns in a multi‐site, population‐based U.S. cohort of adults with CHD. Methods This retrospective cohort linked health and administrative records from five regions (Colorado, North Carolina, Utah ...
Tessa L. Crume   +17 more
wiley   +1 more source

Beyond the nose: hearing status in 70 patients with congenital choanal atresia. [PDF]

open access: yesEur J Pediatr
Yılmaz Topçuoğlu MS   +3 more
europepmc   +1 more source

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