Výsledky vyhledávání - "CANGEMI, GIUSEPPE ALESSANDRO"

Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche

Autor: NICOLETTI, ANNALISA, MAZZANTI, LAURA, MENABO', SOARA, SCARANO, EMANUELA, TAMBURRINO, FEDERICA, CANGEMI, GIUSEPPE ALESSANDRO, PIRAZZOLI, PIERO, BALDAZZI, LILIA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4094::784003e7e3b0604d9068e25f07e37d75
http://hdl.handle.net/11585/390971

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Study of the NR5A1 gene in a cohort of Italian patients with 46,XY Disorders of Sex Development (DSD) without adrenal insufficiency: identification of 7 novel mutations

Autor: BALDAZZI, LILIA, BALSAMO, ANTONIO, NICOLETTI, ANNALISA, MENABO', SOARA, Rinaldini D., CANGEMI, GIUSEPPE ALESSANDRO, BALSAMO, CLAUDIA, PIRAZZOLI, PIERO, CICOGNANI, ALESSANDRO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4094::db7fe009ca124bac666601aaa8b51e3c
http://hdl.handle.net/11585/108581

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HESX1 gene analysis in a population of 45 patients with posterior pituitari ectopia (PPE) and GH deficiency (GHD): two novel mutations associated with a mild phenotype

Autor: BALDAZZI, LILIA, ZUCCHINI, STEFANO, MENABO', SOARA, NICOLETTI, ANNALISA, BARONIO, FEDERICO, CANGEMI, GIUSEPPE ALESSANDRO, PIRAZZOLI, PIERO, CICOGNANI, ALESSANDRO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4094::49baace87353d577e4abf431ca2015f0
http://hdl.handle.net/11585/104622

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Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling

Autor: NICOLETTI, ANNALISA, BALDAZZI, LILIA, MENABO', SOARA, GENNARI, MONIA, CANGEMI, GIUSEPPE ALESSANDRO, MACCAFERRI, MAURIZIO, CICOGNANI, ALESSANDRO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4094::2b5f346a72b5bb88cf76b09414ddfb3a
http://hdl.handle.net/11585/104619

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