Detalhe da pesquisa
1.
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
Hum Mol Genet
; 28(14): 2378-2394, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090908
2.
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mol Syndromol
; 12(6): 342-350, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899143
3.
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
BMJ Open
; 8(10): e021632, 2018 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30373780
4.
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Metabolism
; 71: 213-225, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28521875