Resultados da pesquisa - Bauer‐Carlin, Astrid

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations Por Gentile, Jennifer K., Tan, Wen-Hann, Horowitz, Lucia T., Bacino, Carlos A., Skinner, Steven A., Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Lee, Hye-Seung, Sahoo, Trilochan, Waisbren, Susan E., Bird, Lynne M., Peters, Sarika U.

Obter o texto integral Obter o texto integral Obter o texto integral

A Therapeutic Trial of Pro-methylation Dietary Supplements in Angelman Syndrome Por Bird, Lynne M., Tan, Wen-Hann, Bacino, Carlos A., Peters, Sarika U., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Mohan, K. Naga, Nespeca, Mark P., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Beaudet, Arthur L.

Obter o texto integral Obter o texto integral Obter o texto integral

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene Por Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E

Obter o texto integral Obter o texto integral Obter o texto integral

Angelman Syndrome: Mutations Influence Features in Early Childhood Por Tan, Wen-Hann, Bacino, Carlos A., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Kothare, Sanjeev V., Lee, Hye-Seung, Nespeca, Mark P., Peters, Sarika U., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Bird, Lynne M.

Obter o texto integral Obter o texto integral Obter o texto integral