Detalhe da pesquisa
1.
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
J Peripher Nerv Syst
; 24(1): 139-144, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734407
2.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Mol Genet Genomic Med
; 7(9): e875, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338985
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
4.
Endoscopic Submandibular Retropharyngeal Approach to the Craniocervical Junction and Clivus: an Anatomic Study.
World Neurosurg
; 106: 266-276, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28698084