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A cohort study of fetal urinary tract abnormalities and chromosomal copy number variations: a retrospective analysis of 9-year data

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A cohort study of fetal urinary tract abnormalities and chromosomal copy number variations: a retrospective analysis of 9-year data

Lin Chen et al · Springer · 2026 · ISSN 1432-0711

Abstract Objective To investigate the association between ultrasonically detected fetal urinary system abnormalities and chromosomal copy number variations (CNVs) in Heilongjiang Province, northeastern China. Methods Coh...

LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma eng

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Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack

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Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack

Buonfiglio, Paula Inés et al · Springer · 2019 · ISSN 1018-4813

Hereditary Hearing Loss (HHL) is a common trait affecting 1 in 2000 new born children. The presence of over 100 different genes involved in HHL, lead us to go on board with Whole Exome Sequencing (WES) in order to search...

Idioma eng

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