Detalhe da pesquisa
1.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743206
2.
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proc Natl Acad Sci U S A
; 117(6): 3053-3062, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980526
3.
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
Am J Med Genet A
; 167A(11): 2844-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108976
4.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
JIMD Rep
; 52(1): 3-10, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154053
5.
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Cold Spring Harb Mol Case Stud
; 3(5)2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550066