Detalhe da pesquisa
1.
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Mol Genet Metab
; 138(4): 107549, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913764
2.
Management of COVID-19 infection in organic acidemias.
Am J Med Genet A
; 185(6): 1854-1857, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686767
3.
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency.
Neuropediatrics
; 51(2): 160-163, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766059
4.
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 26(4): 101052, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38393332
5.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100812, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058144
6.
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
JIMD Rep
; 64(2): 167-179, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873094
7.
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
Eur J Med Genet
; 64(4): 104184, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33639315
8.
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.
AJP Rep
; 11(1): e26-e28, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542858
9.
Genetic Etiologies of Neonatal Seizures.
Neoreviews
; 21(10): e663-e672, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004559