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Refinado por: Base de dados/Biblioteca: Academic OneFile remover xxx: xxx remover Female remover Bmc Medical Genomics remover
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Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients
Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients
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Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Lai, Hua ; Liu, Xianxian ; Xin, Siming ; Zheng, Jiusheng ; Liu, Huai ; Ouyang, Yu ; Yang, Huoxiu ; Zeng, Yang ; Zou, Yang ; Zeng, Xiaoming

BMC medical genomics, 2022-04, Vol.15 (1), p.90-90, Article 90 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
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Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

An, Yu ; Duan, Wenyuan ; Huang, Guoying ; Chen, Xiaoli ; Li, Li ; Nie, Chenxia ; Hou, Jia ; Gui, Yonghao ; Wu, Yiming ; Zhang, Feng ; Shen, Yiping ; Wu, Bailin ; Wang, Hongyan

BMC medical genomics, 2016-01, Vol.9 (2), p.2-2, Article 2 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations
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Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

Wang, Chaohong ; Tang, Junxiang ; Tong, Keting ; Huang, Daoqi ; Tu, Huayu ; Li, Qingnan ; Zhu, Jiansheng

BMC medical genomics, 2021-12, Vol.14 (1), p.292-292, Article 292 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
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The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

Wayhelova, Marketa ; Smetana, Jan ; Vallova, Vladimira ; Hladilkova, Eva ; Filkova, Hana ; Hanakova, Marta ; Vilemova, Marcela ; Nikolova, Petra ; Gromesova, Barbora ; Gaillyova, Renata ; Kuglik, Petr

BMC medical genomics, 2019-07, Vol.12 (1), p.111-111, Article 111 [Periódico revisado por pares]

England: BioMed Central Ltd

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