檢索結果 - Anu Bashamboo

Editorial: 46,XX differences of sex development (DSD) outside congenital adrenal hyperplasia (CAH) 由 Antonio Balsamo, Anu Bashamboo, Silvano Bertelloni, Anna Lauber-Biason

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Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study 由 Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

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Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 由 Audrey Vizeneux, Aude Hilfiger, Jérôme Bouligand, Monique Pouillot, Sylvie Brailly-Tabard, Anu Bashamboo, Ken McElreavey, Raja Brauner

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Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls. 由 Raja Brauner, Anu Bashamboo, Sébastien Rouget, Marie Goulet, Pascal Philibert, Hélène Sarda-Thibault, Christine Trivin, Micheline Misrahi, Charles Sultan, Ken McElreavey

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Evidence for NR2F2/COUP-TFII involvement in human testis development 由 Somboon Wankanit, Housna Zidoune, Joëlle Bignon-Topalovic, Laurène Schlick, Denis Houzelstein, Leila Fusée, Asma Boukri, Nassim Nouri, Ken McElreavey, Anu Bashamboo, Maëva Elzaiat

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Association of spermatogenic failure with the b2/b3 partial AZFc deletion. 由 Abdelmajid Eloualid, Houria Rhaissi, Ahmed Reguig, Safaa Bounaceur, Brahim El Houate, Omar Abidi, Majida Charif, Noureddine Louanjli, Elbakkay Chadli, Abdelhamid Barakat, Anu Bashamboo, Ken McElreavey, Hassan Rouba

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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination 由 Denis Houzelstein, Caroline Eozenou, Carlos F. Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S. Conway, Delphine Bohl, John C. Achermann, Anu Bashamboo, Ken McElreavey

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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects 由 Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects 由 Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

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