TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews by David Shaki, Marina Eskin-Schwartz, Noam Hadar, Emily Bosin, Lior Carmon, Samuel Refetoff, Eli Hershkovitz, Ohad S Birk, Alon Haim

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Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center by Odeya David, Odeya David, Rotem Agur, Rosa Novoa, David Shaki, David Shaki, Dganit Walker, Lior Carmon, Lior Carmon, Marina Eskin-Schwartz, Marina Eskin-Schwartz, Ohad S. Birk, Ohad S. Birk, Galina Ling, Galina Ling, Ruth Schreiber, Ruth Schreiber, Neta Loewenthal, Neta Loewenthal, Alon Haim, Alon Haim, Eli Hershkovitz, Eli Hershkovitz

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P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies by Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Michal Naftali, Marina Eskin-Schwartz, Ohad Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Ori Segol, Noy Azulay, Yael Goldberg

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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

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Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. by Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L Gallo, Noam Shomron, Ralf Paus, Eli Sprecher

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