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1 Ergebnisse
1
Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Targ..:
Topaloglu, A. Kemal
;
Lomniczi, Alejandro
;
Kretzschmar, Doris
...
The Journal of Clinical Endocrinology & Metabolism. 99 (2014) 10 - p. E2067-E2075 , 2014
Link:
https://doi.org/10.1210/jc.2014-1836
RT Journal T1 <Title>Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1210_jc.2014-1836&Exemplar=1&LAN=DE A1 Topaloglu, A. Kemal A1 Lomniczi, Alejandro A1 Kretzschmar, Doris A1 Dissen, Gregory A. A1 Kotan, L. Damla A1 McArdle, Craig A. A1 Koc, A. Filiz A1 Hamel, Ben C. A1 Guclu, Metin A1 Papatya, Esra D. A1 Eren, Erdal A1 Mengen, Eda A1 Gurbuz, Fatih A1 Cook, Mandy A1 Castellano, Juan M. A1 Kekil, M. Burcu A1 Mungan, Neslihan O. A1 Yuksel, Bilgin A1 Ojeda, Sergio R. PB The Endocrine Society YR 2014 SN 0021-972X SN 1945-7197 JF The Journal of Clinical Endocrinology & Metabolism VO 99 IS 10 SP E2067 OP E2075 LK http://dx.doi.org/https://doi.org/10.1210/jc.2014-1836 DO https://doi.org/10.1210/jc.2014-1836 SF ELIB - SuUB Bremen
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