Detalhe da pesquisa
1.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet
; 32(5): 732-744, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067040
2.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
3.
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
Am J Med Genet A
; 155A(5): 1109-14, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21484992
4.
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117073
5.
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Mol Genet Genomic Med
; 8(3): e1121, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903733