Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00492
- By:
- Publication type:
- Article
Works matching AU He, Ji‐Qiang
Results: 4
1
2
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 96, doi. 10.1159/000512856
- By:
- Publication type:
- Article
3
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split‐hand/foot malformation with hypodontia.
- Published in:
- Journal of Gene Medicine, 2019, v. 21, n. 10, p. N.PAG, doi. 10.1002/jgm.3122
- By:
- Publication type:
- Article
4
Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.
- Published in:
- 2023
- By:
- Publication type:
- Case Study