Detalhe da pesquisa
1.
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Clin Genet
; 100(3): 348-349, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114225
2.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol
; 8(2): 471-476, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405357
3.
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Mol Genet Genomic Med
; 7(9): e839, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393079