Detalhe da pesquisa
1.
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Clin Genet
; 105(6): 671-675, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351533
2.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
3.
Thrombogenicity and endothelial progenitor cells function during Acute myocardial infarction - comparison of Prasugrel versus Ticagrelor.
J Thromb Thrombolysis
; 55(3): 407-414, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598739
4.
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
Prenat Diagn
; 43(8): 1066-1078, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37115172
5.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
J Med Genet
; 59(8): 759-767, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321325
6.
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Hum Mutat
; 43(12): 2265-2278, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36153662
7.
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
J Hum Genet
; 67(2): 95-101, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400773
8.
Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.
Am J Med Genet A
; 188(7): 1990-1996, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312147
9.
Impact of Calcium Channel Blockers on Aspirin Reactivity in Patients with Coronary Artery Disease.
Cardiovasc Drugs Ther
; 36(3): 467-473, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800208
10.
The Effect of Proprotein Convertase Subtilisin Kexin Type 9 Inhibitors on Circulating Endothelial Progenitor Cells in Patients with Cardiovascular Disease.
Cardiovasc Drugs Ther
; 36(1): 85-92, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33394363
11.
The Effect of Tafamidis on Circulating Endothelial Progenitor Cells in Patients with Transthyretin Cardiac Amyloidosis.
Cardiovasc Drugs Ther
; 36(3): 489-496, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550515
12.
Leptin modulates gene expression in the heart, cardiomyocytes and the adipose tissue thus mitigating LPS-induced damage.
Exp Cell Res
; 404(2): 112647, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015313
13.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
14.
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
Metab Brain Dis
; 36(7): 2155-2167, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963976
15.
The Scattering of Gold Nanorods Combined with Differential Uptake, Paving a New Detection Method for Macrophage Subtypes Using Flow Cytometery.
Nano Lett
; 20(11): 8360-8368, 2020 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063518
16.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
17.
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
Neurogenetics
; 21(4): 243-249, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424628
18.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
19.
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Am J Med Genet A
; 182(10): 2207-2213, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001581
20.
Brain white matter abnormalities associated with copy number variants.
Am J Med Genet A
; 182(1): 93-103, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31622028