Detalhe da pesquisa
1.
Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1.
Pediatr Nephrol
; 38(6): 1811-1820, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36449101
2.
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
3.
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
4.
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
5.
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
6.
De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.
Am J Med Genet B Neuropsychiatr Genet
; 183(7): 412-422, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815282
7.
A clinically validated whole genome pipeline for structural variant detection and analysis.
BMC Genomics
; 20(Suppl 8): 545, 2019 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31307387
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.
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
Harefuah
; 156(3): 156-162, 2017 Mar.
Artigo
em Hebraico
| MEDLINE | ID: mdl-28551940
12.
Long term ophthalmic complications of distal arthrogryposis type 5D.
Ophthalmic Genet
; 44(1): 28-34, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459431
13.
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
14.
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
15.
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
16.
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
17.
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.
Biomedicines
; 9(7)2021 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356852
18.
Low dosage of rasagiline and epigallocatechin gallate synergistically restored the nigrostriatal axis in MPTP-induced parkinsonism.
Neurodegener Dis
; 7(4): 219-31, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20197647
19.
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
Eur J Med Genet
; 63(11): 104020, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827718
20.
Genetic counseling of high-risk isolated populations: A worldwide challenge.
Birth Defects Res
; 112(4): 316-320, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32115902