Results 201 to 210 of about 1,899,712 (390)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Trends in U.S. National Institutes of Health Funding for CHARGE Syndrome Research, 2000 to 2024

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Muhammad Othman   +2 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips   +8 more
wiley   +1 more source

Birth Defects in Northern Iran (2008-2013)

open access: yesIranian Journal of Public Health, 2018
Background: Congenital anomalies are important medical and public health conditions. The pattern and prevalence of birth defects may vary over time or with geographical location.
Arezoo MIRFAZELI   +4 more
doaj  

Maternal pesticide exposure from multiple sources and selected congenital anomalies.

open access: yes, 1999
G. Shaw   +4 more
semanticscholar   +1 more source

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