Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah
Published in American journal of human genetics (09.04.2010)
Published in American journal of human genetics (09.04.2010)
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Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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The Wilms’ Tumor Suppressor Gene (wt1) Product Regulates Dax-1 Gene Expression during Gonadal Differentiation
Kim, Jungho, Prawitt, Dirk, Bardeesy, Nabeel, Torban, Elena, Vicaner, Caroline, Goodyer, Paul, Zabel, Bernard, Pelletier, Jerry
Published in Molecular and Cellular Biology (01.03.1999)
Published in Molecular and Cellular Biology (01.03.1999)
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Wolcott-Rallison Syndrome
Senée, Valérie, Vattem, Krishna M., Delépine, Marc, Rainbow, Lynn A., Haton, Céline, Lecoq, Annick, Shaw, Nick J., Robert, Jean-Jacques, Rooman, Raoul, Diatloff-Zito, Catherine, Michaud, Jacques L., Bin-Abbas, Bassan, Taha, Doris, Zabel, Bernard, Franceschini, Piergiorgio, Topaloglu, A. Kemal, Lathrop, G. Mark, Barrett, Timothy G., Nicolino, Marc, Wek, Ronald C., Julier, Cécile
Published in Diabetes (New York, N.Y.) (01.07.2004)
Published in Diabetes (New York, N.Y.) (01.07.2004)
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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
SENEE, Valérie, VATTEM, Krishna M, MICHAUD, Jacques L, BIN-ABBAS, Bassan, TAHA, Doris, ZABEL, Bernard, FRANCESCHINI, Piergiorgio, TOPALOGLU, A. Kemal, LATHROP, G. Mark, BARRETT, Timothy G, NICOLINO, Marc, WEK, Ronald C, DELEPINE, Marc, JULIER, Cécile, RAINBOW, Lynn A, HATON, Céline, LECOQ, Annick, SHAW, Nick J, ROBERT, Jean-Jacques, ROOMAN, Raoul, DIATLOFF-ZITO, Catherine
Published in Diabetes (New York, N.Y.) (01.07.2004)
Published in Diabetes (New York, N.Y.) (01.07.2004)
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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11
BARTSCH, O, WIM WUYTS, SHAFFER, L. G, WILLEMS, P. J, VAN HUL, W, HECHT, J. T, MEINECKE, P, HOGUE, D, WERNER, W, ZABEL, B, HINKEL, G. K, POWELL, C. M
Published in American journal of human genetics (01.04.1996)
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Published in American journal of human genetics (01.04.1996)
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A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes
Buiting, Karin, Greger, Valerie, Brownstein, Bernhard H., Mohr, Rose M., Voiculescu, Ion, Winterpacht, Andreas, Zabel, Bernard, Horsthemke, Bernhared
Published in Proceedings of the National Academy of Sciences - PNAS (15.06.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (15.06.1992)
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Cellular Homologs of the Avian Erythroblastosis Virus erb-A and erb-B Genes are Syntenic in Mouse but Asyntenic in Man
Zabel, Bernard U., Fournier, R. E. K., Lalley, Peter A., Naylor, Susan L., Sakaguchi, Alan Y.
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1984)
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1984)
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