Výsledky vyhledávání - "Vineeth S. Venugopal"

Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation‐dependent probe amplification

Autor: Malini S. Suttur, Sushmita Billapati, Rachel A. Jesudasan, Suhana Anand, Usha R. Dutta, Vineeth S. Venugopal, Sravani Gopalasetty, Sangamesh N. Talwar, Ashwin Dalal, Laxmi Priyanka Posanapally

Publikováno v: Andrologia. 52

Male infertility is a common and severe problem affecting 7% of population. The main objective of this study is to identify the chromosomal abnormalities, Y microdeletions in infertile men and also to access the frequency of abnormal sperm count. Bas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a8b2d2cf69778215c2fefda8e4b9fa
https://doi.org/10.1111/and.13761

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Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype

Autor: Vineeth S. Venugopal, Ashwin Dalal, Shagun Aggarwal, Karthik Bharadwaj Tallapaka

Publikováno v: American Journal of Medical Genetics Part A. 176:1006-1010

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic los

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f36e79bd5bb48bedb264f7be555fa06
https://doi.org/10.1002/ajmg.a.38646

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