Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency
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DOI: 10.1002/pd.5789
Abstract: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. read more here.
Keywords: exome sequencing; diagnosis; sequencing improves; nuchal translucency ... See more keywords
How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility
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DOI: 10.1111/andr.13728
Abstract: Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes… read more here.
Keywords: infertility; diagnostics management; non syndromic; sequencing improves ... See more keywords
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
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DOI: 10.1186/s13023-024-03056-6
Abstract: Background Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilities and common daily functioning. The rapid… read more here.
Keywords: neurodevelopmental disorders; trio based; causative variants; diagnostic yield ... See more keywords