Detalhe da pesquisa
1.
Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility.
J Hum Genet
; 67(2): 107-114, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34462535
2.
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Mol Genet Genomic Med
; 9(2): e1591, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33452876
3.
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
Mol Genet Genomic Med
; 7(6): e685, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31016883