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Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22010
Abstract: By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single…
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Keywords:
risk;
rare deletions;
whole exome;
families whole ... See more keywords
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Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.4983
Abstract: Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies.
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Keywords:
isolated oral;
incidence outcome;
oral cleft;
pregnancies incidence ... See more keywords
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Published in 2019 at "Early human development"
DOI: 10.1016/j.earlhumdev.2019.06.005
Abstract: BACKGROUND The cleft lip with or without palate is the most common congenital craniofacial anomaly, presenting prevalence that varies between different ethnicities. It presents a complex and multifactorial etiology which involves genetic and environmental factors.…
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Keywords:
consanguinity;
parental consanguinity;
occurrence;
cleft ... See more keywords