Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
Topaloglu, A. Kemal, Lomniczi, Alejandro, Kretzschmar, Doris, Dissen, Gregory A, Kotan, L. Damla, McArdle, Craig A, Koc, A. Filiz, Hamel, Ben C, Guclu, Metin, Papatya, Esra D, Eren, Erdal, Mengen, Eda, Gurbuz, Fatih, Cook, Mandy, Castellano, Juan M, Kekil, M. Burcu, Mungan, Neslihan O, Yuksel, Bilgin, Ojeda, Sergio R
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism
Gürbüz, Fatih, Kotan, L Damla, Mengen, Eda, Şıklar, Zeynep, Berberoğlu, Merih, Dökmetaş, Sebila, Kılıçlı, Mehmet Fatih, Güven, Ayla, Kirel, Birgül, Saka, Nurçin, Poyrazoğlu, Şükran, Cesur, Yaşar, Doğan, Murat, Özen, Samim, Özbek, Mehmet Nuri, Demirbilek, Hüseyin, Kekil, M Burcu, Temiz, Fatih, Önenli Mungan, Neslihan, Yüksel, Bilgin, Topaloğlu, Ali Kemal
Published in Journal of clinical research in pediatric endocrinology (01.09.2012)
Published in Journal of clinical research in pediatric endocrinology (01.09.2012)
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