Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shira Perlberg-Bengio"'
Autor:
Ephrat Levy-Lahad, Sharon Zeligson, Carmit Avnon Ziv, Abdulsalam Abu-Libdeh, David Zangen, Paul Renbaum, Tehila Klopstock, Eran Lavi, Reeval Segel, Floris Levy-Khademi, Doron M. Behar, Boris Chertin, Tzvia Rosen, Shira Perlberg-Bengio, Fouad Zahdeh
Publikováno v:
Endocrine. 69:650-654
Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7bf07982e4d6a37d603480ef3afe154
https://doi.org/10.1007/s12020-020-02327-z
https://doi.org/10.1007/s12020-020-02327-z
Autor:
Floris, Levy-Khademi, Sharon, Zeligson, Eran, Lavi, Tehila, Klopstock, Boris, Chertin, Carmit, Avnon-Ziv, Abdulsalam, Abulibdeh, Paul, Renbaum, Tzvia, Rosen, Shira, Perlberg-Bengio, Fouad, Zahdeh, Doron M, Behar, Ephrat, Levy-Lahad, David, Zangen, Reeval, Segel
Publikováno v:
Endocrine. 69(3)
Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e207beaab013948b3de3cecced0bff6
https://pubmed.ncbi.nlm.nih.gov/32372306
https://pubmed.ncbi.nlm.nih.gov/32372306
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Autor:
Levy-Khademi, Floris, Zeligson, Sharon, Lavi, Eran, Klopstock, Tehila, Chertin, Boris, Avnon- Ziv, Carmit, Abulibdeh, Abdulsalam, Renbaum, Paul, Rosen, Tzvia, Perlberg-Bengio, Shira, Zahdeh, Fouad, Behar, Doron M., Levy-Lahad, Ephrat, Zangen, David, Segel, Reeval
Publikováno v:
Endocrine (1355008X); Sep2020, Vol. 69 Issue 3, p650-654, 5p