Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414417
3.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190319
4.
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
5.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain
; 141(3): 698-712, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365063
6.
Microarray analysis in pregnancies with isolated unilateral kidney agenesis.
Pediatr Res
; 83(4): 825-828, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29320483
7.
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.
J Med Genet
; 50(11): 772-5, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812912
8.
Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.
Clin Med Insights Endocrinol Diabetes
; 17: 11795514241259740, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38854748
9.
Glycerol Phenylbutyrate treatment of two patients with Monocarboxylate Transporter 8 deficiency.
J Clin Endocrinol Metab
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469646
10.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
11.
Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.
Horm Res Paediatr
; 96(5): 473-482, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36812896
12.
Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study.
Front Endocrinol (Lausanne)
; 14: 1268193, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027168
13.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
; 14(1): 3403, 2023 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296101
14.
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Orphanet J Rare Dis
; 16(1): 379, 2021 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34496908
15.
Modeling genetic epileptic encephalopathies using brain organoids.
EMBO Mol Med
; 13(8): e13610, 2021 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268881
16.
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.
Cells
; 10(4)2021 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916893
17.
Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies.
Early Hum Dev
; 145: 105047, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32339917
18.
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Nat Commun
; 10(1): 3529, 2019 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388001
19.
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.
Obstet Gynecol
; 132(6): 1368-1375, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30399107
20.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
; 14(1): 3566, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322043