HuGE Literature Finder
Records 1-5
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Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing.
Life (Basel, Switzerland) 2020 Oct 10 (10): . Cannarella Rossella, Precone Vincenza, Guerri Giulia, Busetto Gian Maria, Di Renzo Gian Carlo, Gerli Sandro, Manara Elena, Dautaj Astrit, Bertelli Matteo, Calogero Aldo Eugen |
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Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov . Xu Cheng, Cassatella Daniele, van der Sloot Almer M, Quinton Richard, Hauschild Michael, De Geyter Christian, Flück Christa, Feller Katrin, Bartholdi Deborah, Nemeth Attila, Halperin Irene, Pekic Djurdjevic Sandra, Maeder Philippe, Papadakis Georgios, Dwyer Andrew A, Marino Laura, Favre Lucie, Pignatelli Duarte, Niederländer Nicolas J, Acierno James, Pitteloud Nel |
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Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep . Aoyama Kohei, Mizuno Haruo, Tanaka Tatsushi, Togawa Takao, Negishi Yutaka, Ohashi Kei, Hori Ikumi, Izawa Masako, Hamajima Takashi, Saitoh Shin |
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Genetics of congenital hypogonadotropic hypogonadism in Denmark.
European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
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CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
Clinical genetics 2009 Jan 75 (1): 65-71. Jongmans M C J, van Ravenswaaij-Arts C M A, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten H L, van der Donk K, Seminara S, Bergman J E H, Brunner H G, Crowley W F, Hoefsloot L |
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- Page last updated:Sep 16, 2021
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