Arama Sonuçları - "recession"

Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature? Yazar: Elena Kurteva, Keith J. Lindley, Susan M. Hill, Jutta Köglmeier

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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report Yazar: Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu

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Association of KCNJ11 (rs5219) gene polymorphism with susceptibility to gestational diabetes mellitus: a review and meta-analysis Yazar: Seyed Sobhan Bahreiny, Akram Ahangarpour, Khojasteh Hoseinynejad, Saeid Bitaraf, Mohammad Reza Dabbagh, Mohadeseh Aghli Moghadam, Amir Hossein Mahdizade, Mojtaba Aghaei

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Improving health-related fitness in children: the fit-4-Fun randomized controlled trial study protocol Yazar: Eather Narelle, Morgan Philip J, Lubans David R

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Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report Yazar: Ming Hu, Shuang Chen, Jinyuan Wu, Rong Wang

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Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia Yazar: Hong Lin, Jordi Magrane, Elisia M. Clark, Sarah M. Halawani, Nathan Warren, Amy Rattelle, David R. Lynch

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Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report Yazar: Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia

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Association between the methylenetetrahydrofolate reductase C677T polymorphism and hepatocellular carcinoma risk: a meta-analysis Yazar: Shen Xi-Zhong, Qu Li-Shuai, Jin Fei

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Association of single nucleotide polymorphisms in AXIN2, BMP4, and IRF6 with Non-Syndromic Cleft Lip with or without Cleft Palate in a sample of the southeast Iranian population Yazar: Houshang Rafighdoost, Mohammad Hashemi, Hiva Danesh, Fatemeh Bizhani, Gholamreza Bahari, Mohsen Taheri

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Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene Yazar: Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang

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First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations Yazar: Elmahmoudi Hejer, Khodjet-, Wigren Edvard, Jlizi Asma, Zahra Kaouther, Pellechia Dorothé, Vinciguerra Christine, Meddeb Balkis, Elggaaied Amel Ben, Gouider Emna

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Major Thalassemia, Screening or Treatment: An Economic Evaluation Study in Iran Yazar: Firooz Esmaeilzadeh, Batoul Ahmadi, Sajad Vahedi, Saeed Barzegari, Abdolhalim Rajabi

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A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1 Yazar: Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-

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Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study Yazar: Jun Chen, Jun Chen, Yifan Yang, Binjie Liu, Binjie Liu, Xiaoli Xie, Wenjie Li, Wenjie Li, Wenjie Li

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Health information literacy among children with spinal muscular atrophy and their caregivers Yazar: Weiran Zhang, Yijie Feng, Yue Yan, Mei Yao, Feng Gao, Wei Lin, Shanshan Mao

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Deletion of a single allele of the Pex11β gene is sufficient to cause oxidative stress, delayed differentiation and neuronal death in mouse brain Yazar: Barbara Ahlemeyer, Magdalena Gottwald, Eveline Baumgart-Vogt

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Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia Yazar: Daniel Fil, Balu K. Chacko, Robbie Conley, Xiaosen Ouyang, Jianhua Zhang, Victor M. Darley-Usmar, Aamir R. Zuberi, Cathleen M. Lutz, Marek Napierala, Jill S. Napierala

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CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons Yazar: S. Schuster, E. Heuten, A. Velic, J. Admard, M. Synofzik, S. Ossowski, B. Macek, S. Hauser, L. Schöls

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Dental and periodontal health status of subjects with sickle cell disease Yazar: Esra Guzeldemir, Hilal Uslu Toygar, Can Boga, Ulkem Cilasun

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Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control... Yazar: Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel

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