Detalhe da pesquisa
1.
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Mol Genet Genomic Med
; 10(4): e1901, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35235708
2.
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
Gene
; 654: 110-115, 2018 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462647
3.
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Gene
; 565(1): 150-4, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25839938
4.
A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening.
J Genet Genomics
; 43(3): 155-9, 2016 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27020035