Detalhe da pesquisa
1.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
2.
A novel mutation of BEST1 gene in Best disease.
Eur J Ophthalmol
; 31(3): NP93-NP95, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321300
3.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurol Genet
; 7(6): e613, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34790866
4.
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
Genes (Basel)
; 11(10)2020 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050294
5.
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Front Genet
; 9: 723, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740127