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Keywords: Genetics
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Biosci Rep (2021) 41 (10): BSR20211865.
Published: 29 October 2021
...Manisha Ray; Saurav Sarkar; Mukund Namdev Sable Hearing loss (HL) is a significant public health problem and causes the most frequent congenital disability in developed societies. The genetic analysis of non-syndromic hearing loss (NSHL) may be considered as a complement to the existent plethora...
Includes: Supplementary data
Biosci Rep (2020) 40 (12): BSR20201856.
Published: 22 December 2020
...Peifang Jiang; Yinjie Ling; Tao Zhu; Xiaoying Luo; Yilin Tao; Feilong Meng; Weixin Cheng; Yanchun Ji Aim: To conduct the clinical, genetic, and molecular characterization of 494 Han Chinese subjects with tic disorders (TD). Methods: In the present study, we performed the mutational analysis of 22...
Includes: Supplementary data
Biosci Rep (2020) 40 (5): BSR20200616.
Published: 07 May 2020
... not been determined. We conducted a systematic analysis of the clinical characteristics, hormone levels, ultrasonography data and histopathology of a 46, XY Chinese patient with AIS. The family was followed up for nearly 8 years. We applied whole-exome sequencing (WES) for genetic analysis of the pedigree...
Biosci Rep (2017) 37 (1): BSR20160184.
Published: 03 February 2017
.... Findings from recent large genome-wide association studies (GWAS) for various measures of body fat distribution (including waist-to-hip ratio, hip or waist circumference, trunk fat percentage and the ratio of android and gynoid fat percentage) emphasize the strong sexual dimorphism in the genetic...
Biosci Rep (2006) 26 (5): 341–367.
Published: 09 November 2006
.... Factors associated with predisposition and vulnerability to neurodegenerative disorders may be described usefully within the context of gene–environment interplay. There are many identified genetic determinants for neurodegeneration, and it is possible to duplicate many elements of recognized human...