检索结果 - Mandy Cook
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Loss-of-Function Mutations in<i>PNPLA6</i>Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome 由 A. Kemal Topaloğlu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A. Dissen, Leman Damla Kotan, Craig A. McArdle, Altuğ Koç, Ben C.J. Hamel, Metin Güçlü, Esra Deniz Papatya Çakır, Erdal Eren, Eda Mengen, Fatih Gürbüz, Mandy Cook, Juan M. Castellano, M. Burcu Kekil, Neslihan Önenli Mungan, Bilgin Yüksel, Sergio R. Ojeda
出版 2014Artigo