Detalhe da pesquisa
1.
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.
J Assist Reprod Genet
; 41(3): 751-756, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277113
2.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503210
3.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Eur J Med Genet
; 66(3): 104715, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708876