Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Counseling and FGFR1[original query] |
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| Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9. Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri |
| Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
| Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism. Genetics in medicine : official journal of the American College of Medical Genetics 2020 7 22 (11): 1759-1767. Acierno James S, Xu Cheng, Papadakis Georgios E, Niederländer Nicolas J, Rademaker Jesse D, Meylan Jenny, Messina Andrea, Kolesinska Zofia, Quinton Richard, Lang-Muritano Mariarosaria, Bartholdi Deborah, Halperin Irene, De Geyter Christian, Bouligand Jérôme, Bartoloni Lucia, Young Jacques, Santoni Federico A, Pitteloud Nel |
| Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism. Journal of pediatric endocrinology & metabolism : JPEM 2021 4 34 (6): 771-780. Turkyilmaz Ayberk, Cayir Atilla, Yarali Oguzhan, Kurnaz Erdal, Kartal Baykan Emine, Arslan Ates Esra, Demirbilek Husey |
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