NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems by Aviv Mesika, Aviv Mesika, Golan Nadav, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai

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Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease by Tameemi Abdallah Moady, Marwan Odeh, Marwan Odeh, Ayalla Fedida, Zvi Segal, Zvi Segal, Maayan Gruber, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai

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A genetic survey of patients with familial idiopathic intracranial hypertension residing in a Middle Eastern village: genetic association study by Eran Berkowitz, Tzipora C. Falik Zaccai, Dana Irge, Inbar Gur, Beatrice Tiosano, Anat Kesler

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Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division by Masanori Honsho, Yuichi Abe, Yuuta Imoto, Zee-Fen Chang, Hanna Mandel, Tzipora C. Falik-Zaccai, Yukio Fujiki

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Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study by Nehama Cohen-Kfir, Miriam Ethel Bentwich, Andrew Kent, Nomy Dickman, Mary Tanus, Basem Higazi, Limor Kalfon, Mary Rudolf, Tzipora C. Falik-Zaccai

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Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants by Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai

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Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment by Andrea E. DeBarber, Limor Kalfon, Ayalla Fedida, Vered Fleisher Sheffer, Shani Ben Haroush, Natalia Chasnyk, Efrat Shuster Biton, Hanna Mandel, Krystal Jeffries, Eric S. Shinwell, Tzipora C. Falik-Zaccai

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Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study by Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico

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Two novel mutations identified in familial cases with Donohue syndrome by Tzipora C. Falik Zaccai, Limor Kalfon, Aharon Klar, Mordechai Ben Elisha, Haggit Hurvitz, Galina Weingarten, Emelia Chechik, Vered Fleisher Sheffer, Raid Haj Yahya, Gal Meidan, Eva Gross‐Kieselstein, Dvora Bauman, Sylvia Hershkovitz, Yuval Yaron, Avi Orr‐Urtreger, Efrat Wertheimer

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Hereditary orotic aciduria identified by newborn screening by Orna Staretz-Chacham, Orna Staretz-Chacham, Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Nasser Abu Salah, Yair Anikster, Yair Anikster, Ortal Barel, Elena Dumin, Elena Dumin, Aviva Fattal-Valevski, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Eli Hershkovitz, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Yuval Landau, Tally Lerman-Sagie, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Ronen Spiegel, Ronen Spiegel, Galit Tal, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Stanley H. Korman, Shlomo Almashanu

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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome by Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni

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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome by Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni

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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder by Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove

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