Marina Eskin-Schwartz

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 19

Top Venues

European journal of human genetics : EJHG

Genes

Journal of inherited metabolic disease

Clinical genetics

Soroka University Medical Center

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Soroka University Medical Center

Israel

MD :: Genetic Institute

Publications

Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies. Genes 15 (3) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG (2024)
Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies. Genes 15 (3) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG (2024)
Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, Marina Eskin-Schwartz, Noam Hadar, Sarit Aharoni, Vadim Dolgin, Eugen Cohen, Ohad S Birk
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway. Journal of medical genetics (2024)
Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies. Genes 15 (3) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies. Genes 15 (3) (2024)
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Journal of inherited metabolic disease (2023)
Marina Eskin-Schwartz, Vadim Dolgin, Elena Didkovsky, Ilana Aminov, Anna Pikovsky, Noam Hadar, Eyal Kristal, Galina Ling, Idan Cohen, Uri Zilberman, Ohad S Birk
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews. Clinical genetics (2023)
Alon Peled, Ofer Sarig, Janan Mohamad, Marina Eskin-Schwartz, Dan Vodo, Ron Bochner, Natalia Malchin, Ofer Isakov, Noam Shomron, Gilad Fainberg, Marta Bertolini, Ralf Paus, Eli Sprecher
Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4. American journal of medical genetics. Part A (2023)
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Journal of inherited metabolic disease (2023)
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk
Hyperinsulinism / hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Journal of inherited metabolic disease (2023)
Sarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, Yuval Yogev, Ohad Wormser, Noam Hadar, Anna Bakhrat, Ismael Alshafee, Maya Gombosh, Nadav Agam, Libe Gradstein, Zamir Shorer, Raz Zarivach, Marina Eskin-Schwartz, Uri Abdu, Ohad S Birk
PSMC1 variant causes a novel neurological syndrome. Clinical genetics 102 (4) (2022)
Janan Mohamad, Liat Samuelov, Natalia Malchin, Tom Rabinowitz, Sari Assaf, Liron Malki, Kiril Malovitski, Shirli Israeli, Meital Grafi-Cohen, Ora Bitterman-Deutsch, Vered Molho-Pessach, Eran Cohen-Barak, Gideon Bach, Ben Zion Garty, Reuven Bergman, Avikam Harel, Arti Nanda, Giles G Lestringant, John A McGrath, Stavit Shalev, Noam Shomron, Jacob Mashiah, Marina Eskin-Schwartz, Eli Sprecher, Ofer Sarig
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Experimental dermatology 30 (9) (2021)
Odeya David, Marina Eskin-Schwartz, Galina Ling, Vadim Dolgin, Eyal Kristal, Ela Benkowitz, Lidia Osyntsov, Libe Gradstein, Ohad S Birk, Neta Loewenthal, Baruch Yerushalmi
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy. Clinical genetics 98 (3) (2020)

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Publication Activity (10 Years)

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Marina Eskin-Schwartz