全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Kinga Hadzsiev , Attila Miseta
来源:[J].BMC Genetics(IF 2.808), 2017, Vol.18 (1)Springer
摘要:Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that the source of South Asian ancestry in Roma originates most likely from the Northwest region of India.
作者:Kinga Hadzsiev , Endre Pál ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type dispr...
作者:... Erzsebet Kovesdi , Kinga Hadzsiev , Bela Melegh
来源:[J].Pharmacological Reports(IF 1.965), 2015, Vol.67 (3), pp.460-464Elsevier
摘要:Abstract(#br)Background(#br)Cytochrome P450 2B6 and 2D6 are important enzymes in human drug metabolism. These phase I enzymes are known to contribute the biotransformation of clinically important pharmaceuticals, including antidepressants, anticancer and anxiolytic drugs. The aim...
作者:Kinga Hadzsiev , Katalin Komlosi ...
来源:[J].Molecular Cytogenetics(IF 2.36), 2016, Vol.9 (1)Springer
摘要:Abstract(#br) Background(#br)Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, s...
作者:Kinga Hadzsiev , Márta Czakó ...
来源:[J].Molecular Cytogenetics(IF 2.36), 2015, Vol.8 (1)Springer
摘要:Abstract(#br) Background(#br)Interstitial deletions of 4q21 (MIM 613509) have already been reported in more than a dozen patients with deletions ranging from 2 to 15.1 Mb delineating a common phenotype including marked growth restriction, hypotonia, severe developmental delay wit...
作者:Kinga Hadzsiev , Balazs Duga ...
来源:[J].Molecular Cytogenetics(IF 2.36), 2015, Vol.8 (1)Springer
摘要:Abstract(#br) Background(#br)Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications, triplications and supernumerary chromoso...
作者:... Erzsebet Kovesdi , Kinga Hadzsiev , Bela Melegh
来源:[J].Pharmacological Reports(IF 1.965), 2015, Vol.67 (3), pp.460-464Springer
摘要:Abstract(#br)Background(#br)Cytochrome P450 2B6 and 2D6 are important enzymes in human drug metabolism. These phase I enzymes are known to contribute the biotransformation of clinically important pharmaceuticals, including antidepressants, anticancer and anxiolytic drugs. The aim...
作者:Kinga Hadzsiev , Yoko A. Ito ...
来源:[J].European Journal of Medical Genetics(IF 1.685), 2019, Vol.62 (7)Elsevier
摘要:Abstract(#br)Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated with a rare, autosomal dominant limb-girdle muscular dystrophy 1F (LG...

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