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Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility

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Year: 2025
Type: article
Study design: Observational Study
Source: Human Reproduction
DOI: 10.1093/humrep/deaf231
Authors: Triin Kikas, Avirup Dutta, Rain Inno, Kristjan Pomm, Stanislav Tjagur, Olev Poolamets, Hanno Roomere, Margus Punab, Maris Laan
Institutions: University of Tartu, Tartu University Hospital
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Eesti Teadusagentuur
Award: Mono- and digenic causes of male infertility in the exome sequencing era: novel genes, digenic inheritance, pleiotropic effects and clinical implications
OpenAlex ID: W4417035471
FWCI: 0.552
Cites: 49
Cited by: 1
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