未登录Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey
Emekli, Inci; Tepgec, Fatih; Samanci, Bedia; Toksoy, Guven; Kina, Gizem Hasanogullari; Tufekcioglu, Zeynep; Basaran, Seher; Bilgic, Basar; Gurvit, I. Hakan; Emre, Murat; Uyguner, Zehra Oya; Hanagasi, Hasmet A.
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收藏The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
Gordillo, Miriam; Vega, Hugo; Trainer, Alison H.; Hou, Fajian; Sakai, Norio; Luque, Ricardo; Kayserili, Huelya; Basaran, Seher; Skovby, Flemming; Hennekam, Raoul C. M.; Uzielli, Maria L. Giovannucci; Schnur, Rhonda E.; Manouvrier, Sylvie; Chang, Susan; Blair, Edward; Hurst, Jane A.; Forzano, Francesca; Meins, Moritz; Simola, Kalle O. J.; Raas-Rothschild, Annick; Schultz, Roger A.; McDaniel, Lisa D.; Ozono, Keiichi; Inui, Koji; Zou, Hui; Jabs, Ethylin Wang
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收藏Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss脂肪瘤HMGIC融合伴侣样5 (LHFPL5) 基因的突变导致常染色体隐性非综合征性听力损失
Kalay, Ersan; Li, Yun; Uzumcu, Abdullah; Uyguner, Oya; Collin, Rob W.; Caylan, Refik; Ulubil-Emiroglu, Melike; Kersten, Ferry F. J.; Hafiz, Gunter; van Wijk, Erwin; Kayserili, Hulya; Rohmann, Edyta; Wagenstaller, Janine; Hoefsloot, Lies H.; Strom, Tim M.; Nuernberg, Gudrun; Baserer, Nermin; den Hollander, Anneke I.; Cremers, Frans P. M.; Cremers, Cor W. R. J.; Becker, Christian; Brunner, Han G.; Nuernberg, Peter; Karaguzel, Ahmet; Basaran, Seher; Kubisch, Christian; Kremer, Hannie; Wollnik, Bernd
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