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MeSH:(*Exome)

2.Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases.

Gerald GOH ; Murim CHOI

Genomics & Informatics 2012;10(4):214-219

3.Exome Sequencing in Mendelian Disorders.

Jong Keuk LEE

Journal of Genetic Medicine 2010;7(2):119-124

4.Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants.

Kyung KIM ; Moon Woo SEONG ; Won Hyong CHUNG ; Sung Sup PARK ; Sangseob LEEM ; Won PARK ; Jihyun KIM ; Kiyoung LEE ; Rae Woong PARK ; Namshin KIM

Genomics & Informatics 2015;13(2):31-39

5.Target gene panel method versus whole-exome sequencing in detection of idiopathic hypogonadotropic hypogonadism in males.

Yan-Ju GUO ; Yao-Man GUO ; Ying HAN ; Qiu-Yue WU ; Yang YANG ; Tao LUO ; Xiao-Feng XU ; Xin-Yi XIA

National Journal of Andrology 2021;27(10):899-903

6.Evaluation of type 2 diabetes risk variants (alleles) in the Pashtun ethnic population of Pakistan

Asif Jan ; Muhammad Saeed ; Zakiullah ; Rani Akbar ; Hamayun Khan

Journal of the ASEAN Federation of Endocrine Societies 2023;38(S1):48-54

7.Whole exome sequencing in a pedigree with ankylosing spondylitis.

Wei-Fan REN ; Jing-Tao HU ; Yang GAO ; Wei-Bin DU ; He-Lou ZHANG ; Yi-Jiang WU ; Feng-Qing WU ; Le CHAI ; Ren-Fu QUAN

China Journal of Orthopaedics and Traumatology 2020;33(7):672-676

8.Clinical application of whole exome sequencing in monogenic hereditary disorders in critically ill newborns.

Zhi-Ye QI ; Jiang DUAN ; Xiang-Ying HE ; Qing-Hua ZHONG ; Cai-Ying ZHANG ; Yun-Bo XIE ; Kun LIANG

Chinese Journal of Contemporary Pediatrics 2019;21(7):640-643

9.Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing.

Tingying LEI ; Fang FU ; Ru LI ; Dan WANG ; Dan YANG ; Fang WANG ; Xin YANG ; Min PAN ; Li ZHEN ; Jin HAN ; Dongzhi LI ; Can LIAO

Chinese Journal of Medical Genetics 2018;35(6):856-859

10.Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.

Maki FUKAMI ; Mami MIYADO

Annals of Pediatric Endocrinology & Metabolism 2017;22(2):90-94

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