Detalhe da pesquisa
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38411040
2.
Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes.
Trends Genet
; 36(7): 523-539, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32451166
3.
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
Bioinformatics
; 38(9): 2664-2666, 2022 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35289834
4.
JASPAR 2020: update of the open-access database of transcription factor binding profiles.
Nucleic Acids Res
; 48(D1): D87-D92, 2020 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31701148
5.
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.
Hum Genet
; 138(5): 455-466, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30955094
6.
A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
PLoS Genet
; 12(12): e1006482, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28033318
7.
Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts.
Front Public Health
; 8: 111, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32391301