Detalhe da pesquisa
1.
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
J Biol Chem
; : 107437, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838776
2.
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402532
3.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379057
4.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
J Inherit Metab Dis
; 44(4): 972-986, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320377
5.
Identification and characterization of a phage display-derived peptide for orthopoxvirus detection.
Anal Bioanal Chem
; 406(29): 7611-21, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25311190