Detalhe da pesquisa
1.
Functional assessment of variants associated with Wolfram syndrome.
Hum Mol Genet
; 28(22): 3815-3824, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600780
2.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833411
3.
A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.
Pediatr Diabetes
; 20(4): 474-481, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30821020
4.
Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
J Am Acad Dermatol
; 90(6): 1279-1280, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38360177
5.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257424
6.
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
J Invest Dermatol
; 144(3): 593-600.e7, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716647
7.
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
J Invest Dermatol
; 141(12): 2979-2983.e1, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34116062