Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
2.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
3.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
4.
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.
Genet Med
; 25(10): 100924, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422717
5.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
6.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
7.
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
Mol Cell
; 60(1): 89-104, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26431026
8.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
9.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
10.
Using nirmatrelvir/ritonavir in patients with epilepsy: An update from the Israeli chapter of the International League Against Epilepsy.
Epilepsia
; 63(5): 1276-1278, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239193
11.
Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.
Neuroradiology
; 64(3): 611-620, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532765
12.
Neuro-Ophthalmic Phenotype of OPA3.
J Neuroophthalmol
; 42(1): e147-e152, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33870938
13.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
14.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
15.
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
16.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Ann Neurol
; 88(2): 348-362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515017
17.
An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.
Childs Nerv Syst
; 37(12): 3827-3833, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491422
18.
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Hum Mutat
; 41(2): 476-486, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692205
19.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689
20.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Am J Hum Genet
; 101(4): 516-524, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942967