Detalhe da pesquisa
1.
[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(3): 294-299, 2024 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38448017
2.
Application of Restriction Site-Associated DNA Sequencing (RAD-Seq) for Copy Number Variation and Triploidy Detection in Human.
Cytogenet Genome Res
; 161(8-9): 406-413, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657031
3.
[Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].
Zhonghua Fu Chan Ke Za Zhi
; 48(3): 161-4, 2013 Mar.
Artigo
em Zh
| MEDLINE | ID: mdl-23849935
4.
Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.
Clin Appl Thromb Hemost
; 28: 10760296221119807, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979587
5.
Generation of induced pluripotent stem cell line GZHMCi006-A from amniotic fluid-derived cells with deletion 14q syndrome.
Stem Cell Res
; 53: 102315, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894549
6.
Noninvasive prenatal testing for ß-thalassemia by targeted nanopore sequencing combined with relative haplotype dosage (RHDO): a feasibility study.
Sci Rep
; 11(1): 5714, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707551