Detalhe da pesquisa
1.
Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
Clin Genet
; 105(3): 262-272, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994684
2.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870986
3.
Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.
Pediatr Dermatol
; 41(2): 292-295, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800459
4.
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Mol Genet Metab
; 140(3): 107669, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542767
5.
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
Mol Genet Metab
; 140(1-2): 107633, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414610
6.
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.
Am J Med Genet A
; 188(7): 2231-2236, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385210
7.
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
Am J Med Genet A
; 188(4): 1239-1244, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905296
8.
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Am J Med Genet A
; 185(6): 1870-1874, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729671
9.
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
Am J Med Genet A
; 182(11): 2781-2787, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32909658
10.
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Mol Genet Metab
; 128(4): 431-443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31757659
11.
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
Am J Med Genet A
; 179(10): 2138-2143, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290619
12.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Am J Med Genet A
; 179(12): 2459-2468, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520464
13.
Phenotype-autosomal recessive osteopetrosis.
Bone
; 165: 116577, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36195244
14.
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
Genes (Basel)
; 13(8)2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35893030
15.
Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (ITPR1) Missense Variant.
ACG Case Rep J
; 8(10): e00676, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34722792
16.
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
Eur J Med Genet
; 62(6): 103531, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30142436