Results 121 to 130 of about 104,225 (323)

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley   +3 more
wiley   +1 more source

Cutaneous Features of Adams‐Oliver Syndrome: Diagnosis, Differentiation, and Management

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Adams‐Oliver syndrome (AOS) is a rare genetic disorder primarily characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The condition presents with a range of cutaneous features, most notably ACC, cutis marmorata telangiectatica congenita, and nail anomalies.
Sabrina Yang, Joseph M. Lam
wiley   +1 more source

A rare type of atrial septal defect [PDF]

open access: bronze, 1968
R J McCormack   +2 more
openalex   +1 more source

Quality control of intraoperative autologous blood salvage in cardiac surgery

open access: yesTransfusion, EarlyView.
Abstract Background The management of intraoperative autologous blood salvage (ABS) quality is essential to ensure safety and outcomes; although publications on this subject are scarce. We evaluated a standardized program of ABS quality control for cardiac and evaluated surgery predictors of mortality in this population. Methods Data from a multicenter
Sergio Domingos Vieira   +11 more
wiley   +1 more source

Cardiac conduction system and the electrocardiogram of the common hippopotamus (Hippopotamus amphibius)

open access: yesExperimental Physiology, EarlyView.
Abstract The common hippopotamus (Hippopotamus amphibius) shares a common terrestrial ancestor with whales (Cetacea) and has independently evolved similar physiological adaptations to their aquatic lifestyle. Although several studies have explored the electrical signalling in whale hearts, the understanding of the conduction system and electrical ...
Morten B. Thomsen   +12 more
wiley   +1 more source

Vector Cardiogram and Anatomy of Atrial Septal Defect [PDF]

open access: bronze, 1963
A. C. Arntzenius   +3 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

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