Publications by authors named "M Shohat"

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Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Mordechai Shohat

Prenat Diagn· December 2025

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Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.
Hadas Miremberg, Gustavo Malinger, Deborah Kidron, Michal Levy, Yuval Yaron, Mordechai Shohat

Prenat Diagn· December 2025

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A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.
Sharon Bratman Morag, Chen Itzkovich, Alina Kurolap, Mordechai Shohat, Alexandra Durr

Genet Med· November 2025

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Mordechai Shohat

Brain· September 2025

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Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, Neta Feinstein-Goren, Aviva Eliyahu, Mordechai Shohat

Orphanet J Rare Dis· March 2025

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