Search Results - "Papatya, Esra D"

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome by 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

“…Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying…”
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Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level by Eren, Erdal, Özkan, Tanju Başarır, Çakır, Esra D Papatya, Sağlam, Halil, Tarım, Ömer

“…Lipodystrophies are a group of diseases characterized by loss of fat tissue and are associated with insulin resistance. A six-year-old girl followed with the…”
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A rare cause of precocious puberty: hepatoblastoma by Eren, Erdal, Demirkaya, Metin, Çakır, Esra D Papatya, Sevinir, Betül, Sağlam, Halil, Tarım, Ömer

“…Hepatoblastoma, an embryonal tumor, is one of the most common primary liver tumors in childhood. It secretes human chorionic gonadotropin (hCG), which can…”
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