תוצאות חיפוש - Rosenblatt, David S.
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A RaDiCAL gene hunt מאת Pupavac, Mihaela, Zawati, Ma'n H., Rosenblatt, David S.
יצא לאור 2017Text -
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Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis מאת Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques
יצא לאור 2014Text -
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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 מאת Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
יצא לאור 2016Text -
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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 מאת Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Wilson, Aaron, Wu, Xuchu, Doré, Carole, Hudson, Thomas, Rosenblatt, David S., Gravel, Roy A.
יצא לאור 2002Text -
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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 מאת Zhao, Rongbao, Min, Sang Hee, Qiu, Andong, Sakaris, Antoinette, Goldberg, Gary L., Sandoval, Claudio, Malatack, J. Jeffrey, Rosenblatt, David S., Goldman, I. David
יצא לאור 2007Text -
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Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A מאת 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.
יצא לאור 2016Text -
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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression מאת 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.
יצא לאור 2014Text -
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Allosteric regulation of oligomerization by a B(12) trafficking G-protein is corrupted in methylmalonic aciduria מאת 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
יצא לאור 2019Text -
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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) מאת 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.
יצא לאור 2010Text -
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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome מאת 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.
יצא לאור 2010Text