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1 Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population [期刊论文]

来源：BMC Medical Genetics

作者:Weiping Teng;Zhongyan Shan;Hongmei Zhang;等

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2 Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease [期刊论文]

来源：BMC Medical Genetics

作者:Christopher G. Proud, Noel C. Wortham

关键词:VWM;EIF2B1;...

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3 An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 [期刊论文]

来源：BMC Medical Genetics

作者:Alfredo Brusco;Xiuqing Zhang;Hakon Hakonarson;等

关键词:Myoclonus;Autosomal recessive ataxia;...

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4 Angiogenesis related genes NOS3, CD14, MMP3 and IL4R are associated to VEGF gene expression and circulating levels in healthy adults [期刊论文]

来源：BMC Medical Genetics

作者:Sophie Visvikis-Siest;Peter Fitzgerald;John Lamont;等

关键词:IL4R;MMP3;...

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5 Mutation in NRAS in familial Noonan syndrome – case report and review of the literature [期刊论文]

来源：BMC Medical Genetics

作者:Marie-Louise Bondeson;Göran Annerén;Otto Westphal;等

关键词:RASopathies;RAS-MAPK pathway;...

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6 A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature [期刊论文]

来源：BMC Medical Genetics

作者:Cheryl Rockman-Greenberg;Jacek Majewski;Jeremy Schwartzentruber;等

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