Ginat Narkis
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Explore the profile of Ginat Narkis including associated specialties, affiliations and a list of published articles.
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21
Citations
494
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Recent Articles
1.
Dolgin V, Chabosseau P, Bistritzer J, Noyman I, Staretz-Chacham O, Wormser O, et al.
JIMD Rep
. 2025 Jan;
66(1):e12465.
PMID: 39790720
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the...
2.
Levy M, Elron E, Shohat M, Lifshitz S, Kahana S, Shani H, et al.
J Hum Genet
. 2024 Apr;
69(7):337-343.
PMID: 38632380
Background: Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms. Existing literature has limited information on clinical traits and penetrance. Methods: We...
3.
Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, et al.
Hum Genet
. 2024 Apr;
143(5):695-701.
PMID: 38607411
With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient and user-friendly tools that simplify variant analysis. Although multiple tools exist, many...
4.
Hadar N, Narkis G, Amar S, Varnavsky M, Palti G, Safran A, et al.
Eur J Hum Genet
. 2023 Apr;
31(7):738-743.
PMID: 37055538
Short-Tandem-Repeats (STRs) have long been studied for possible roles in biological phenomena, and are utilized in multiple applications such as forensics, evolutionary studies and pre-implantation-genetic-testing (PGT). The two reference genomes...
5.
Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk O
Biomed Res Int
. 2017 Nov;
2017:3470234.
PMID: 29119105
Mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor cause autosomal recessive glycosylation defects, with a wide phenotypic spectrum of intellectual disability, seizures, minor facial dysmorphism, hypotonia,...
6.
Gueta K, David A, Cohen T, Menuchin-Lasowski Y, Nobel H, Narkis G, et al.
Development
. 2016 Oct;
143(22):4182-4192.
PMID: 27697904
The Lim domain-binding proteins are key co-factor proteins that assemble with LIM domains of the LMO/LIM-HD family to form functional complexes that regulate cell proliferation and differentiation. Using conditional mutagenesis...
7.
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
Gradstein L, Zolotushko J, Sergeev Y, Lavy I, Narkis G, Perez Y, et al.
BMC Med Genet
. 2016 Aug;
17(1):52.
PMID: 27475985
Background: Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and...
8.
Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, et al.
Eur J Hum Genet
. 2014 Nov;
23(12):1729-34.
PMID: 25388005
A consanguineous Bedouin Israeli kindred presented with a novel autosomal recessive intellectual disability syndrome of congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows...
9.
Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, et al.
Eur J Hum Genet
. 2013 Jul;
22(3):374-8.
PMID: 23860037
Autosomal recessive Adams-Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams-Oliver syndrome genes, identifying a single-homozygosity ∼1.8-Mb novel locus...
10.
Markus B, Narkis G, Landau D, Birk R, Cohen I, Birk O
Hum Mutat
. 2012 May;
33(10):1435-8.
PMID: 22610851
Autosomal recessive lethal congenital contractural syndrome (LCCS) is a severe form of neuromuscular arthrogryposis. We previously showed that this phenotype is caused in two unrelated inbred Bedouin tribes by different...