Detalhe da pesquisa
1.
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
Am J Med Genet A
; : e63622, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38572626
2.
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
Am J Med Genet A
; 194(1): 53-58, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37664979
3.
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
Am J Med Genet A
; : e63618, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38597178
4.
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Mol Genet Metab Rep
; 38: 101051, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469093
5.
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Genes (Basel)
; 14(3)2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980880
6.
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
Genes (Basel)
; 14(1)2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672876
7.
Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.
J Mol Diagn
; 24(10): 1100-1111, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868509