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Soroka University Medical Center: Beer Sheva, Southern, IL

MD (Genetic Institute)
Employment
Source: Self-asserted source
Marina Eskin-Schwartz

Works (9)

Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

Journal of Medical Genetics
2025-01 | Journal article
Contributors: Marina Eskin-Schwartz; Shaikah Seraidy; Eyal Paz; Maism Molhem; Emmanuelle Ranza; Stylianos E Antonarakis; Xavier Blanc; Kristin Herman; William S Benko; Stephanie Libzon et al.
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Crossref

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

Journal of Medical Genetics
2024-10 | Journal article
Contributors: Maya Gombosh; Regina Proskorovski-Ohayon; Yuval Yogev; Marina Eskin-Schwartz; Noam Hadar; Sarit Aharoni; Vadim Dolgin; Eugen Cohen; Ohad S Birk
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Crossref

ZNF142mutation causes sex-dependent neurologic disorder

Journal of Medical Genetics
2024-06 | Journal article
Contributors: Regina Proskorovski-Ohayon; Marina Eskin-Schwartz; Zamir Shorer; Rotem Kadir; Daniel Halperin; Max Drabkin; Yuval Yogev; Sarit Aharoni; Noam Hadar; Hagit Cohen et al.
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Crossref

Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice

European Journal of Human Genetics
2024-05 | Journal article
Contributors: Noam Hadar; Omri Porgador; Idan Cohen; Hilla Levi; Vadim Dolgin; Yuval Yogev; Sufa Sued-Hendrickson; Ilan Shelef; Elena Didkovsky; Marina Eskin-Schwartz et al.
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Crossref

A <i>POT1</i> Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies

Genes
2024-03 | Journal article | Author
Contributors: Aasem Abu Shtaya; Inbal Kedar; Lily Bazak; Lina Basel-Salmon; Sarit Farage Barhom; Michal Naftali; Marina Eskin-Schwartz; Ohad Birk; Shirley Polager-Modan; Nitzan Keidar et al.
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Multidisciplinary Digital Publishing Institute

CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews

Clinical Genetics
2024-01 | Journal article
Contributors: Marina Eskin‐Schwartz; Vadim Dolgin; Elena Didkovsky; Ilana Aminov; Anna Pikovsky; Noam Hadar; Eyal Kristal; Galina Ling; Idan Cohen; Uri Zilberman et al.
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Crossref

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4

American Journal of Medical Genetics Part A
2023-12 | Journal article
Contributors: Alon Peled; Ofer Sarig; Janan Mohamad; Marina Eskin‐Schwartz; Dan Vodo; Ron Bochner; Natalya Malchin; Ofer Isakov; Noam Shomron; Gilad Fainberg et al.
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Crossref

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

Journal of Inherited Metabolic Disease
2023-07 | Journal article
Contributors: Amit Safran; Regina Proskorovski‐Ohayon; Marina Eskin‐Schwartz; Yuval Yogev; Max Drabkin; Ekaterina Eremenko; Sarit Aharoni; Ofek Freund; Matan M. Jean; Nadav Agam et al.
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Crossref

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Clinical Genetics
2020-09 | Journal article
Contributors: Odeya David; Marina Eskin‐Schwartz; Galina Ling; Vadim Dolgin; Eyal Kristal; Ela Benkowitz; Lidia Osyntsov; Libe Gradstein; Ohad S. Birk; Neta Loewenthal et al.
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Crossref