نتائج البحث - ROSENBLATT, DAVID
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F. Clarke Fraser (1920–2014) حسب Rosenblatt, David S.
منشور في 2015نص -
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Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism حسب Atkinson, Celia, Miousse, Isabelle R., Watkins, David, Rosenblatt, David S., Raiman, Julian A. J.
منشور في 2014نص -
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Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis حسب Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques
منشور في 2014نص -
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Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene حسب Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
منشور في 2016نص -
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THE MMACHC PROTEOME: HALLMARKS OF FUNCTIONAL COBALAMIN DEFICIENCY IN HUMANS حسب Hannibal, Luciana, DiBello, Patricia M., Yu, Michelle, Miller, Abby, Wang, Sihe, Willard, Belinda, Rosenblatt, David S., Jacobsen, Donald W.
منشور في 2011نص -
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Identification of the gene responsible for the cblA complementation group of vitamin B(12)-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements حسب Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Wilson, Aaron, Wu, Xuchu, Doré, Carole, Hudson, Thomas, Rosenblatt, David S., Gravel, Roy A.
منشور في 2002نص -
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The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption حسب Zhao, Rongbao, Min, Sang Hee, Qiu, Andong, Sakaris, Antoinette, Goldberg, Gary L., Sandoval, Claudio, Malatack, J. Jeffrey, Rosenblatt, David S., Goldman, I. David
منشور في 2007نص -
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Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A حسب Gupta, Swati, Fahiminiya, Somayyeh, Wang, Tracy, Dempsey Nunez, Laura, Rosenblatt, David S., Gibson, William T., Gilfix, Brian, Bergeron, John J. M., Jerome-Majewska, Loydie A.
منشور في 2016نص -
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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression حسب Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.
منشور في 2014نص -
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Allosteric regulation of oligomerization by a B(12) trafficking G-protein is corrupted in methylmalonic aciduria حسب Ruetz, Markus, Campanello, Gregory C., McDevitt, Liam, Yokom, Adam L., Yadav, Pramod K., Watkins, David, Rosenblatt, David S., Ohi, Melanie D., Southworth, Daniel R., Banerjee, Ruma
منشور في 2019نص -
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Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B(12) حسب Quadros, Edward V., Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M., Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W., Fedosov, Sergey, Wright, Erica, Gallagher, Renata C., Anastasio, Natascia, Watkins, David, Rosenblatt, David S.
منشور في 2010نص -
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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome حسب Anastasio, Natascia, Ben-Omran, Tawfeg, Teebi, Ahmad, Ha, Kevin C.H., Lalonde, Emilie, Ali, Rehab, Almureikhi, Mariam, Der Kaloustian, Vazken M., Liu, Junhui, Rosenblatt, David S., Majewski, Jacek, Jerome-Majewska, Loydie A.
منشور في 2010نص