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作者:Andreas Brunklaus , Costin Leu , Marie Gramm ...
来源:[J].European Journal of Paediatric Neurology(IF 1.982), 2020, Vol.24, pp.35-39
摘要:Abstract(#br)By accumulating ever greater amounts of genomic data, scientists have identified >100 genes associated with Mendelian forms of epilepsy and neurodevelopmental disorders with seizures. For most of the identified genes a wide range of genetic variants have been id...
作者:The Aquaculture Genomics, Genetics and Breeding Workshop , Hisham Abdelrahman , Mohamed ElHady ...
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:... The ultimate goals of aquaculture genomics, genetics and breeding research are to enhance aquaculture production efficiency, sustainability, product quality, and profitability in support of the commercial sector and for the benefit of consumers. In order to achieve these goal...
作者:Matthew Neil Bainbridge , Lili Li , Yanli Tan ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based “precision medicine”. Applications of the genetic discoveries to practice of medicine, however, are hindered by phenotypic variability of the genetic variants. The report illustrate...
作者:Petr Triska , Nikolay Chekanov , Vadim Stepanov ...
来源:[J].BMC Genetics(IF 2.808), 2017, Vol.18 (1)Springer
摘要:The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralic-speaking migrants as well as eastward by Europeans. Unfortunately, the ...
作者:Sara Zaldívar-López , Jennie L. Rowell , Elise M. Fiala ...
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:... Dogs are an ideal model in which to study Hb genes because: 1) they are members of Laurasiatheria, our closest relatives outside of Euarchontoglires (including primates, rodents and rabbits), 2) dog breeds are isolated populations with their own Hb-associated genetics and ...
作者:Veena Rao
来源:[J].Journal of Genetics(IF 0.876), 2017, Vol.96 (5), pp.855-864Springer
摘要:This is a brief sketch of the history of Journal of Genetics from its beginning in 1909 to the taking over of its publication by the Indian Academy of Sciences in 1985. The account is centred on J. B. S. Haldane’s involvement with it over many years, especially as Editor, in...
作者:Wen-Yi Yang , Thibault Petit , Nicholas Cauwenberghs ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Platelet Endothelial Aggregation Receptor 1 (PEAR1), a membrane protein highly expressed in platelets and endothelial cells, plays a role in platelet contact-induced activation, sustained platelet aggregation and endothelial function. Previous reports implicate PEAR1 rs12041331 a...
作者:Wen’an Xu , Qiuyue Chen , Cuixian Liu ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations.

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