Associated Papers
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP et al.
Orphanet Journal of Rare Diseases, 2017
28222800 (PubMed )
Supplement: 13023_2017_575_MOESM3_ESM.xlsx › Table_S2
Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.
van Bruggen R et al.
Plos One, 2015
Exploring putative molecular mechanisms of human pyruvate kinase enzyme deficiency and its role in resistance against Plasmodium falciparum malaria.
Qidwai T et al.
Interdisciplinary Sciences, Computational Life Sciences, 2014
Genetic diversity in human erythrocyte pyruvate kinase.
Berghout J et al.
Genes and Immunity, 2012
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