Associated Papers
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Fang Y et al.
Molecular Genetics & Genomic Medicine, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D et al.
Bmc Medical Genetics, 2018
30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 180_Hom___cHet
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
[Partial thyroxine binding globulin deficiency in test tube infants: report of cases and literature review].
Fang YL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Select a paper to view details