TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

por Shaki, David, Eskin-Schwartz, Marina, Hadar, Noam, Bosin, Emily, Carmon, Lior, Refetoff, Samuel, Hershkovitz, Eli, Birk, Ohad S, Haim, Alon
Publicado 2021

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

por David, Odeya, Agur, Rotem, Novoa, Rosa, Shaki, David, Walker, Dganit, Carmon, Lior, Eskin-Schwartz, Marina, Birk, Ohad S., Ling, Galina, Schreiber, Ruth, Loewenthal, Neta, Haim, Alon, Hershkovitz, Eli
Publicado 2022

PSMC1 variant causes a novel neurological syndrome

por Aharoni, Sarit, Proskorovski‐Ohayon, Regina, Krishnan, Ramesh Kumar, Yogev, Yuval, Wormser, Ohad, Hadar, Noam, Bakhrat, Anna, Alshafee, Ismael, Gombosh, Maya, Agam, Nadav, Gradstein, Libe, Shorer, Zamir, Zarivach, Raz, Eskin‐Schwartz, Marina, Abdu, Uri, Birk, Ohad S.
Publicado 2022

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

por Peled, Alon, Sarig, Ofer, Samuelov, Liat, Bertolini, Marta, Ziv, Limor, Weissglas-Volkov, Daphna, Eskin-Schwartz, Marina, Adase, Christopher A., Malchin, Natalia, Bochner, Ron, Fainberg, Gilad, Goldberg, Ilan, Sugawara, Koji, Baniel, Avital, Tsuruta, Daisuke, Luxenburg, Chen, Adir, Noam, Duverger, Olivier, Morasso, Maria, Shalev, Stavit, Gallo, Richard L., Shomron, Noam, Paus, Ralf, Sprecher, Eli
Publicado 2016