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Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 12, p. 2273, doi. 10.1007/s00467-017-3755-8
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- Article
Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.
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- Journal of Child Neurology, 2018, v. 33, n. 7, p. 482, doi. 10.1177/0883073818767036
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- Article
Cold‐sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.
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- FEBS Letters, 2020, v. 594, n. 15, p. 2431, doi. 10.1002/1873-3468.13843
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- Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
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- Neurogenetics, 2020, v. 21, n. 4, p. 259, doi. 10.1007/s10048-020-00615-4
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- Article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
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- Publication type:
- Article
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model‐a pilot study.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 511, doi. 10.1002/pd.6535
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
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- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Article
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79
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- Article
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis.
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- Israel Medical Association Journal, 2017, v. 19, n. 7, p. 435
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- Article
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 3, p. 719, doi. 10.1007/s10815-020-02055-3
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- Article
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
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- Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 151, doi. 10.1007/s10875-022-01358-7
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- Publication type:
- Article
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
- Published in:
- Endocrine (1355008X), 2020, v. 69, n. 3, p. 650, doi. 10.1007/s12020-020-02327-z
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- Article
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.
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- Journal of Perinatal Medicine, 2019, v. 47, n. 1, p. 30, doi. 10.1515/jpm-2017-0321
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- Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
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- 2017
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- Publication type:
- journal article
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 125, doi. 10.1007/s10545-011-9348-y
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- Publication type:
- Article
Carrier screening for Krabbe disease in an isolated inbred community.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2555, doi. 10.1002/ajmg.a.62882
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- Publication type:
- Article
Thiopurine S-methyltransferase (TPMT) Activity Is Better Determined by Biochemical Assay Versus Genotyping in the Jewish Population.
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- Digestive Diseases & Sciences, 2014, v. 59, n. 6, p. 1207, doi. 10.1007/s10620-013-3008-z
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- Publication type:
- Article
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 4, p. 925, doi. 10.1007/s00438-022-01898-y
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- Publication type:
- Article
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45292-z
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- Publication type:
- Article
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45292-z
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- Publication type:
- Article