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收藏BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screeningBCKDK缺乏症: 一种可治疗的神经发育疾病,适合新生儿筛查
Tangeraas, Trine; Constante, Juliana R.; Backe, Paul Hoff; Oyarzabal, Alfonso; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, Francois G.; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodriguez-Pombo, Pilar; Al-Sannaa, Nouriya; de los Santos, Mariela; Muchart Lopez, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Morkrid, Lars; Garcia-Cazorla, Angeles
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收藏Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort通过外显子组测序进行的综合分析揭示了大型多种族队列中常染色体隐性遗传性非综合征性耳聋的遗传病因
Bademci, Guney; Foster, Joseph, II; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F. Basak; Menendez, Ibis; Diaz-Horta, Oscar; Shirkavand, Atefeh; Zeinali, Sirous; Subasioglu, Asli; Tokgoz-Yilmaz, Suna; Huesca-Hernandez, Fabiola; de la Luz Arenas-Sordo, Maria; Dominguez-Aburto, Juan; Hernandez-Zamora, Edgar; Montenegro, Paola; Paredes, Rosario; Moreta, Germania; Vinueza, Rodrigo; Villegas, Franklin; Mendoza-Benitez, Santiago; Guo, Shengru; Bozan, Nazim; Tos, Tulay; Incesulu, Armagan; Sennaroglu, Gonca; Blanton, Susan H.; Ozturkmen-Akay, Hatice; Yildirim-Baylan, Muzeyyen; Tekin, Mustafa
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收藏GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome (vol 90, pg 1088, 2012)
Doherty, Dan; Chudley, Albert E.; Coghlan, Gail; Ishak, Gisele E.; Innes, A. Micheil; Lemire, Edmond G.; Rogers, R. Curtis; Mhanni, Aizeddin A.; Phelps, Ian G.; Jones, Steven J. M.; Zhan, Shing H.; Fejes, Anthony P.; Shahin, Hashem; Kanaan, Moien; Akay, Hatice; Tekin, Mustafa; Triggs-Raine, Barbara; Zelinski, Teresa
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收藏GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Doherty, Dan; Chudley, Albert E.; Coghlan, Gail; Ishak, Gisele E.; Innes, A. Micheil; Lemire, Edmond G.; Rogers, R. Curtis; Mhanni, Aizeddin A.; Phelps, Ian G.; Jones, Steven J. M.; Zhan, Shing H.; Fejes, Anthony P.; Shahin, Hashem; Kanaan, Moien; Akay, Hatice; Tekin, Mustafa; Triggs-Raine, Barbara; Zelinski, Teresa
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收藏MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
Sirmaci, Asli; Walsh, Tom; Akay, Hatice; Spiliopoulos, Michail; Sakalar, Yildirim Bayezit; Hasanefendioglu-Bayrak, Aylin; Duman, Duygu; Farooq, Amjad; King, Mary-Claire; Tekin, Mustafa
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