نتائج البحث - 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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