Detalhe da pesquisa
1.
Genetic defects in peroxisome morphogenesis (Pex11ß, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism.
J Inherit Metab Dis
; 46(2): 273-285, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522796
2.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515074
3.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol
; 33(4): 732-745, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149593
4.
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.
Proc Natl Acad Sci U S A
; 116(2): 566-574, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587587
5.
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Clin Genet
; 98(4): 402-407, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683677
6.
Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study.
BMC Med Ethics
; 21(1): 98, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33059675
7.
Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division.
Int J Mol Sci
; 21(21)2020 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33126676
8.
Localized Provoked Vulvodynia: Association With Nerve Growth Factor and Transient Receptor Potential Vanilloid Type 1 Genes Polymorphisms.
J Low Genit Tract Dis
; 23(1): 58-64, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30418350
9.
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.
J Lipid Res
; 59(11): 2214-2222, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135217
10.
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
Brain
; 140(2): 370-386, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007986
11.
'LEADERS': A culturally tailored approach to genetic counseling for minority populations.
J Genet Couns
; 30(1): 70-74, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33403704
12.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Am J Hum Genet
; 90(1): 102-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22177090
13.
A genetic survey of patients with familial idiopathic intracranial hypertension residing in a Middle Eastern village: genetic association study.
Eur J Med Res
; 29(1): 194, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528581
14.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
15.
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
J Med Genet
; 49(7): 462-72, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22717650
16.
Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.
Front Pediatr
; 11: 1178280, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37780041
17.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
; 14: 1135267, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999056
18.
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.
Front Cell Dev Biol
; 10: 902969, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769264
19.
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.
Mol Genet Genomic Med
; 10(1): e1849, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34970863
20.
Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study.
Curr Alzheimer Res
; 19(10): 694-707, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36278440