Arama Sonuçları - "Medical Genetics"

Estrogen receptor alpha dinucleotide repeat polymorphism in Japanese patients with autoimmune thyroid diseases Yazar: Tozaki Teruaki, Taniyama Matsuo, Ban Yoshiyuki, Tomita Motowo, Ban Yoshio

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Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families Yazar: Tawfiq Froukh, Ammar Hawwari, Khalid Al Zubi

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The role of long non-coding RNAs in the pathogenesis of hereditary diseases Yazar: Peter Sparber, Alexandra Filatova, Mira Khantemirova, Mikhail Skoblov

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Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations Yazar: Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman

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Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis Yazar: Hartley Judith, Nixon Hannah, Wokke Beatrijs, Brockington Alice, Shaw Pamela J

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Relationship between TGF-β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients Yazar: Hong-Yan Li, Tianbiao Zhou, Shujun Lin, Wenshan Lin

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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis Yazar: Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray

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Genomic technologies to improve variation identification in undiagnosed diseases Yazar: Joseph T.C. Shieh

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Associations of BAFF rs2893321 polymorphisms with myasthenia gravis susceptibility Yazar: Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi, Lihua Wang

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Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report Yazar: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher

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A <it>novel </it>heterozygous <it>missense </it>mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy Yazar: Clemente Carla, Gaspar Augusta, Calado Joaquim, Rueff José

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A survey to estimate the prevalence of genital Chlamydia trachomatis among women in Armenia Yazar: Lusine R. Ghazaryan,1,2 Alison G. Muse,3 Tamara F. Sarkisian,5 Dale L. Morse,1,4 Jack A. DeHovitz.1,6

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A novel mutation in the SH3BP2 gene causes cherubism: case report Yazar: Yu Shi-Feng, Li Cui-Ying

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NFIA haploinsufficiency: case series and literature review Yazar: Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Luca Soliani, Duccio Maria Cordelli, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera

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Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy Yazar: Shouyan Zheng, Wei Liao

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Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation Yazar: Zhang Wei-Min, Chien Yin-Hsiu, Tang Nelson LS, Chen Chun-An, Wang Jou-Kou, Hwu Wuh-Liang

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A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease Yazar: Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang

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The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia Yazar: Beil Frank U, Evans David

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The E670G SNP in the <it>PCSK9 </it>gene is associated with polygenic hypercholesterolemia in men but not in women Yazar: Beil Frank U, Evans David

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Rare complications of neurofibromatosis 1 diagnosed incidentally in two children Yazar: Lazea C, Asavoaie C, Al-Khzouz C, Popa L

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