Detalhe da pesquisa
1.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Blood;
141(23): 2853-2866, 2023 06 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36952636
2.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet;
61(3): 289-293, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37833060
3.
Universities should denounce terrorism and antisemitism.
Nature;
623(7987): 483, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37964061
4.
Genetic defects in peroxisome morphogenesis (Pex11ß, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism.
J Inherit Metab Dis;
46(2): 273-285, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36522796
5.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis;
46(2): 232-242, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36515074
6.
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Pediatr Dermatol;
40(6): 1021-1027, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37827535
7.
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
8.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet;
104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30612693
9.
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
10.
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
11.
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.
Arch Gynecol Obstet;
304(3): 649-656, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33591382
12.
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
13.
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
14.
Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division.
Int J Mol Sci;
21(21)2020 Oct 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33126676
15.
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
16.
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
17.
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
18.
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
19.
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
20.
[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