Results 241 to 250 of about 184,117 (387)

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas   +2 more
wiley   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula

open access: yesPaediatric anaesthesia, 2017
A. Zani   +7 more
semanticscholar   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Introducing Novel Surgical Clinical Correlations Into an Undergraduate Medical Anatomy Course

open access: yesClinical Anatomy, Volume 38, Issue 8, Page 852-860, November 2025.
ABSTRACT Anatomy education is a hallmark of many preclinical medical school curricula, but students are often unable to identify the clinical relevance of anatomy and its applications. Vertical curricula that integrate clinical concepts into the preclinical basic science years and vice versa have been shown to benefit student learning and increase ...
Liam McLoughlin   +5 more
wiley   +1 more source

Outcomes After Decompression of the Right Ventricle in Infants With Pulmonary Atresia With Intact Ventricular Septum Are Associated With Degree of Tricuspid Regurgitation: Results From the Congenital Catheterization Research Collaborative

open access: yesCirculation. Cardiovascular Interventions, 2017
Christopher J. Petit   +13 more
semanticscholar   +1 more source

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