Výsledky vyhledávání - MacKinnon, Sarah

Regulation of cell death in mitotic neural progenitor cells by asymmetric distribution of prostate apoptosis response 4 (PAR-4) and simultaneous elevation of endogenous ceramide Autor Bieberich, Erhard, MacKinnon, Sarah, Silva, Jeane, Noggle, Scott, Condie, Brian G.

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Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome Autor MacKinnon, Sarah, Oystreck, Darren T., Andrews, Caroline, Chan, Wai-Man, Hunter, David G., Engle, Elizabeth C.

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Differential Activation of P-TEFb Complexes in the Development of Cardiomyocyte Hypertrophy following Activation of Distinct G Protein-Coupled Receptors Autor Martin, Ryan D., Sun, Yalin, MacKinnon, Sarah, Cuccia, Luca, Pagé, Viviane, Hébert, Terence E., Tanny, Jason C.

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Expanding the Phenotypic Spectrum and Variability of Endocrine Abnormalities Associated With TUBB3 E410K Syndrome Autor Balasubramanian, Ravikumar, Chew, Sheena, MacKinnon, Sarah E., Kang, Peter B., Andrews, Caroline, Chan, Wai-Man, Engle, Elizabeth C.

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Cdk9 and H2Bub1 signal to Clr6-CII/Rpd3S to suppress aberrant antisense transcription Autor Sansó, Miriam, Parua, Pabitra K, Pinto, Daniel, Svensson, J Peter, Pagé, Viviane, Bitton, Danny A, MacKinnon, Sarah, Garcia, Patricia, Hidalgo, Elena, Bähler, Jürg, Tanny, Jason C, Fisher, Robert P

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Cerebral vein malformations result from loss of Twist1 expression and BMP signaling from skull progenitor cells and dura Autor Tischfield, Max A., Robson, Caroline D., Gilette, Nicole M., Chim, Shek Man, Sofela, Folasade A., DeLisle, Michelle M., Gelber, Alon, Barry, Brenda J., MacKinnon, Sarah, Dagi, Linda R., Nathans, Jeremy, Engle, Elizabeth C.

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Two Unique TUBB3 Mutations Cause Both CFEOM3 and Malformations of Cortical Development Autor Whitman, Mary C., Andrews, Caroline, Chan, Wai-Man, Tischfield, Max A., Stasheff, Steven F., Brancati, Francesco, Ortiz-Gonzalez, Xilma, Nuovo, Sara, Garaci, Francesco, MacKinnon, Sarah E., Hunter, David G., Grant, P. Ellen, Engle, Elizabeth C.

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HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1(−/−) Mice Autor Webb, Bryn D., Shaaban, Sherin, Gaspar, Harald, Cunha, Luis F., Schubert, Christian R., Hao, Ke, Robson, Caroline D., Chan, Wai-Man, Andrews, Caroline, MacKinnon, Sarah, Oystreck, Darren T., Hunter, David G., Iacovelli, Anthony J., Ye, Xiaoqian, Camminady, Anne, Engle, Elizabeth C., Jabs, Ethylin Wang

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A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 Autor Chew, Sheena, Balasubramanian, Ravikumar, Chan, Wai-Man, Kang, Peter B., Andrews, Caroline, Webb, Bryn D., MacKinnon, Sarah E., Oystreck, Darren T., Rankin, Jessica, Crawford, Thomas O., Geraghty, Michael, Pomeroy, Scott L., Crowley, William F., Jabs, Ethylin Wang, Hunter, David G., Grant, Patricia E., Engle, Elizabeth C.

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Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect Autor Shaaban, Sherin, MacKinnon, Sarah, Andrews, Caroline, Staffieri, Sandra E., Maconachie, Gail D. E., Chan, Wai-Man, Whitman, Mary C., Morton, Sarah U., Yazar, Seyhan, MacGregor, Stuart, Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Hewitt, Alex W., Hunter, David G., Mackey, David A., Engle, Elizabeth C.

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Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development Autor Jurgens, Julie A., Barry, Brenda J., Lemire, Gabrielle, Chan, Wai-Man, Whitman, Mary C., Shaaban, Sherin, Robson, Caroline D., MacKinnon, Sarah, England, Eleina M., McMillan, Hugh J., Kelly, Christopher, Pratt, Brandon M., O’Donnell-Luria, Anne, MacArthur, Daniel G., Boycott, Kym M., Hunter, David G., Engle, Elizabeth C.

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia Autor Whitman, Mary C., Di Gioia, Silvio Alessandro, Chan, Wai-Man, Gelber, Alon, Pratt, Brandon M., Bell, Jessica L., Collins, Thomas E., Knowles, James A., Armoskus, Christopher, Pato, Michele, Pato, Carlos, Shaaban, Sherin, Staffieri, Sandra, MacKinnon, Sarah, Maconachie, Gail D E., Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Mackey, David A., Hunter, David G., Engle, Elizabeth C.

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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy Autor Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.

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