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收藏Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
Coudert, Alicia; Cazin, Caroline; Amiri-Yekta, Amir; Ben Mustapha, Selima Fourati; Zouari, Raoudha; Bessonat, Julien; Zoghmar, Abdelali; Clergeau, Antoine; Metzler-Guillemain, Catherine; Triki, Chema; Lejeune, Herve; Sermondade, Nathalie; Pipiras, Eva; Prisant, Nadia; Cedrin, Isabelle; Koscinski, Isabelle; Keskes, Leila; Lestrade, Florence; Hesters, Laetitia; Rives, Nathalie; Dorphin, Beatrice; Guichet, Agnes; Patrat, Catherine; Dulioust, Emmanuel; Feraille, Aurelie; Robert, Francois; Brouillet, Sophie; Morel, Frederic; Perrin, Aurore; Rougier, Nathalie; Bieth, Eric; Sorlin, Arthur; Siffroi, Jean-Pierre; Ben Khelifa, Mariem; Boiterelle, Florence; Hennebicq, Sylvianne; Satre, Veronique; Arnoult, Christophe; Coutton, Charles; Barbotin, Anne-Laure; Thierry-Mieg, Nicolas; Kherraf, Zine-Eddine; Ray, Pierre F.
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收藏A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease
Abdelwahed, Mayssa; Chaabouni, Yosr; Michel-Calemard, Laurence; Chaabouni, Khansa; Morel, Yves; Hachicha, Jamil; Makni, Fatma Ayedi; Kamoun, Hassen; Ammar-Keskes, Leila; Belghith, Neila
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收藏A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome
Abdelwahed, Mayssa; Touraine, Renaud; Ben-Rhouma, Bochra; Dhieb, Dhoha; Mars, Manel; Kammoun, Khawla; Hachicha, Jamil; Triki, Chahnez; Kamoun, Hassen; Keskes-Ammar, Leila; Belguith, Neila
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收藏Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma突尼斯肺腺癌患者的基因改变分析
Dhieb, Dhoha; Belguith, Imen; Capelli, Laura; Chiadini, Elisa; Canale, Matteo; Bravaccini, Sara; Yangui, Ilhem; Boudawara, Ons; Jlidi, Rachid; Boudawara, Tahya; Calistri, Daniele; Keskes, Leila Ammar; Ulivi, Paola
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收藏Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
Louhichi, Nacim; Bahloul, Emna; Marrakchi, Slaheddine; Othman, Houda Ben; Triki, Chahnez; Aloulou, Kawthar; Trabelsi, Lobna; Mahfouth, Nadia; Ayadi-Mnif, Zeineb; Keskes, Leila; Fakhfakh, Faiza; Turki, Hamida
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收藏Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
Felhi, Rahma; Sfaihi, Lamia; Charif, Majida; Desquiret-Dumas, Valerie; Bris, Celine; Goudenege, David; Ammar-Keskes, Leila; Hachicha, Mongia; Bonneau, Dominique; Procaccio, Vincent; Reynier, Pascal; Amati-Bonneau, Patrizia; Lenaers, Guy; Fakhfakh, Faiza
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收藏Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations
Stoupa, Athanasia; Chaabane, Rim; Gueriouz, Manelle; Raynaud-Ravni, Catherine; Nitschke, Patrick; Bole-Feysot, Christine; Mnif, Mouna; Ammar Keskes, Leila; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carre, Aurore
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收藏Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia
Ben Khelifa, Mariem; Coutton, Charles; Blum, Michael G. B.; Abada, Farid; Harbuz, Radu; Zouari, Raoudha; Guichet, Agnes; May-Panloup, Pascale; Mitchell, Valerie; Rollet, Jacques; Triki, Chema; Merdassi, Ghaya; Vialard, Francois; Koscinski, Isabelle; Viville, Stephane; Keskes, Leila; Soulie, Jean Pierre; Rives, Nathalie; Dorphin, Beatrice; Lestrade, Florence; Hesters, Laeticia; Poirot, Catherine; Benzacken, Brigitte; Jouk, Pierre-Simon; Satre, Veronique; Hennebicq, Sylviane; Arnoult, Christophe; Lunardi, Joel; Ray, Pierre F.
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收藏Chromosomal defects in infertile men with poor semen quality
Ghorbel, Myriam; Baklouti, Siwar Gargouri; Ben Abdallah, Fatma; Zribi, Nacira; Cherif, Mariem; Keskes, Rim; Chakroun, Nozha; Sellami, Afifa; Belguith, Neila; Kamoun, Hassen; Fakhfakh, Faiza; Ammar-Keskes, Leila
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