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A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia and bilateral basal ganglia lesions by Laura eMelchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, Alessia eNasca, Orly eElpeleg, Alice eZanolini, Daniele eGhezzi
Published 2014-11-01
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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
Published 2023-03-01
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