Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.
J Biol Chem
; 300(4): 107124, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38432637
3.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459438
4.
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Brain
; 145(3): 872-878, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788402
5.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172529
6.
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.
Neurogenetics
; 20(4): 209-213, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31372774
7.
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
Hum Mol Genet
; 25(21): 4635-4648, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158450
8.
Varied utilisation of health provision by Arab and Jewish residents in Israel.
Int J Equity Health
; 14: 63, 2015 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26245327
9.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Life Sci Alliance
; 7(3)2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182161
10.
Homozygous stop-gain variant in LRRC32, encoding a TGFß receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.
Eur J Hum Genet
; 27(8): 1315-1319, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976112
11.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Eur J Hum Genet
; 27(9): 1419-1426, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976113
12.
Lamotrigine overdose in a child.
J Child Neurol
; 22(5): 642-4, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17690076
13.
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Neuromuscul Disord
; 27(2): 136-140, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28024842
14.
Vaccine escape of piliated Streptococcus pneumoniae strains.
Vaccine
; 34(25): 2787-92, 2016 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133876
15.
Measuring the effects of pneumococcal conjugate vaccine (PCV7) on Streptococcus pneumoniae carriage and antibiotic resistance: the Palestinian-Israeli Collaborative Research (PICR).
Vaccine
; 33(8): 1021-6, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25593104
16.
Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.
PLoS One
; 8(7): e69296, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894444
17.
Symptomatic myocardial bridging in a child without hypertrophic cardiomyopathy.
Pediatrics
; 117(2): e333-5, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16390919