Associated Papers
[Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes].
Ji W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G et al.
Genome Medicine, 2022
35710456 (PubMed )
Supplement: 13073_2022_1069_MOESM1_ESM.xlsx › Table_S1
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers LELM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
25644381 (PubMed )
Supplement: mp2014193x1.pdf
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