نتائج البحث - Ohad Wormser
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A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency حسب Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan
الحاوية / القاعدة Molecular Genetics & Genomic Medicine (2020-09-01)احصل على النص الكامل
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2
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter حسب 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
الحاوية / القاعدة JIMD Reports (2025-01-01)احصل على النص الكامل
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3
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma حسب 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
الحاوية / القاعدة npj Genomic Medicine (2023-08-01)احصل على النص الكامل
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