Works matching DE "KALLMANN syndrome"


Results: 300
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    Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5207, doi. 10.3390/ijms26115207
    By:
    • Chiarello, Paola;
    • Gualtieri, Gianmarco;
    • Bossio, Sabrina;
    • Seminara, Giuseppe;
    • Molinaro, Marianna;
    • Antonucci, Gemma;
    • Perri, Anna;
    • Rocca, Valentina;
    • Cannarella, Rossella;
    • La Vignera, Sandro;
    • Calogero, Aldo E.;
    • Greco, Emanuela A.;
    • Iuliano, Rodolfo;
    • Alcaro, Stefano;
    • Aversa, Antonio
    Publication type:
    Article
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    SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.

    Published in:
    Journal of the Endocrine Society, 2021, v. 5, n. 7, p. 1, doi. 10.1210/jendso/bvab056
    By:
    • Shima, Hirohito;
    • Tokuhiro, Etsuro;
    • Okamoto, Shingo;
    • Nagamori, Mariko;
    • Ogata, Tsutomu;
    • Narumi, Satoshi;
    • Nakamura, Akie;
    • Izumi, Yoko;
    • Jinno, Tomoko;
    • Suzuki, Erina;
    • Fukami, Maki
    Publication type:
    Article
    9

    Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.

    Published in:
    Human Reproduction Open, 2024, v. 2024, n. 3, p. 1, doi. 10.1093/hropen/hoae053
    By:
    • Carriço, Josianne Nunes;
    • Gonçalves, Catarina Inês;
    • Al-Naama, Asma;
    • Syed, Najeeb;
    • Aragüés, José Maria;
    • Bastos, Margarida;
    • Fonseca, Fernando;
    • Borges, Teresa;
    • Pereira, Bernardo Dias;
    • Pignatelli, Duarte;
    • Carvalho, Davide;
    • Cunha, Filipe;
    • Saavedra, Ana;
    • Rodrigues, Elisabete;
    • Saraiva, Joana;
    • Ruas, Luisa;
    • Vicente, Nuno;
    • Martins, João Martin;
    • Lages, Adriana De Sousa;
    • Oliveira, Maria João
    Publication type:
    Article
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    Ataxia and focal dystonia in Kallmann syndrome.

    Published in:
    Clinical Case Reports, 2016, v. 4, n. 2, p. 182, doi. 10.1002/ccr3.420
    By:
    • Hernando‐Quintana, Natalia;
    • Playán‐Usón, Jesús;
    • Crespo‐Burillo, José Antonio;
    • Marín‐Cárdenas, Miguel Ángel;
    • Gazulla, José
    Publication type:
    Article
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    Changes in antral follicle count and ovarian volume with age.

    Published in:
    Journal of Experimental & Clinical Medicine / Deneysel ve Klinik Tip Dergisi, 2018, v. 35, n. 3, p. 57, doi. 10.5835/jecm.omu.35.03.001
    By:
    • Kaya, Aysegul;
    • Kokcu, Arif;
    • Ozdes, Emel Kurtoglu;
    • Alper, Tayfun;
    • Cetinkaya, Mehmet Bilge
    Publication type:
    Article
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