Marina Eskin-Schwartz
11PUBLICATIONS
46CO-AUTHORS
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Publications (11)
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|Nov 05, 2024
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz
|Jul 25, 2024
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev
|Mar 28, 2024
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.Aasem Abu Shtaya, Inbal Kedar, Lily Bazak
|Mar 03, 2024
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.Noam Hadar, Omri Porgador, Idan Cohen
|Jan 31, 2024
ZNF142 mutation causes sex-dependent neurologic disorder.Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer
|Oct 10, 2023
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.Marina Eskin-Schwartz, Vadim Dolgin, Elena Didkovsky
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Frequent Collaborators
7 joint publications
Ohad S Birk
4 joint publications
Noam Hadar
3 joint publications
Yuval Yogev
2 joint publications
Janan Mohamad
2 joint publications
Natalya Malchin
2 joint publications
Ofer Sarig
2 joint publications
Eli Sprecher
2 joint publications
Noam Shomron
1 joint publications
Sari Assaf
1 joint publications
Liron Malki
