Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred by Max Drabkin, Ohad S. Birk, Ruth Birk

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ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes. by Idan Cohen, Ramon Y Birnbaum, Keren Leibson, Ran Taube, Sara Sivan, Ohad S Birk

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Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families by Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund, Ohad S. Birk, Erez Tsumi

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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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A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency by Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan

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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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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. by Rotem Kadir, Tamar Harel, Barak Markus, Yonatan Perez, Anna Bakhrat, Idan Cohen, Michael Volodarsky, Miora Feintsein-Linial, Elana Chervinski, Joel Zlotogora, Sara Sivan, Ramon Y Birnbaum, Uri Abdu, Stavit Shalev, Ohad S Birk

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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma by Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk

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A <i>POT1</i> Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies by 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

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