Arama Sonuçları - South, Sarah T

Peroxisome Synthesis in the Absence of Preexisting Peroxisomes Yazar: South, Sarah T., Gould, Stephen J.

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Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome Yazar: Battaglia, Agatino, South, Sarah, Carey, John C

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Inactivation of the endoplasmic reticulum protein translocation factor, Sec61p, or its homolog, Ssh1p, does not affect peroxisome biogenesis Yazar: South, Sarah T., Baumgart, Eveline, Gould, Stephen J.

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Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma Yazar: Paxton, Christian N., Rowe, Leslie R., South, Sarah T.

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The Impact of Dosing Interval in a Novel Tandem Oral Dosing Strategy: Enhancing the Exposure of Low Solubility Drug Candidates in a Preclinical Setting Yazar: Chiang, Po-Chang, South, Sarah A., Wene, Steve P.

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Variants of unknown significance on chromosomal microarray analysis: parental perspectives Yazar: Jez, Stephanie, Martin, Megan, South, Sarah, Vanzo, Rena, Rothwell, Erin

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Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements Yazar: South, Sarah T., Rector, Lyndsey, Aston, Emily, Rowe, Leslie, Yang, Samuel P.

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Inhibitors of Copi and Copii Do Not Block PEX3-Mediated Peroxisome Synthesis Yazar: South, Sarah T., Sacksteder, Katherine A., Li, Xiaoling, Liu, Yifei, Gould, Stephen J.

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Mandibulofacial Dysostosis in a Patient with a de novo 2;17 Translocation that Disrupts the HOXD Gene Cluster Yazar: Stevenson, David A., Bleyl, Steven B., Maxwell, Teresa, Brothman, Arthur R., South, Sarah T.

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Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism Yazar: Toydemir, Reha M., Panza, Emanuele, Longhurst, Maria C., South, Sarah T., Rope, Alan F.

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Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis Yazar: Sacksteder, Katherine A., Jones, Jacob M., South, Sarah T., Li, Xiaoling, Liu, Yifei, Gould, Stephen J.

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CD20dim-positive T-cell large granular lymphocytic leukemia in a patient with concurrent hairy cell leukemia and plasma cell myeloma Yazar: Xu, Xiangdong, Broome, Elizabeth H, Rashidi, Hooman H, South, Sarah T, Dell'Aquila, Marie L, Wang, Huan-You

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Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome Yazar: Andersen, Erica F, Carey, John C, Earl, Dawn L, Corzo, Deyanira, Suttie, Michael, Hammond, Peter, South, Sarah T

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Neoplastic Plasma Cell Aberrant Antigen Expression Patterns and Their Association with Genetic Abnormalities Yazar: Salama, Mohamed E., Du, Shouying, Efimova, Olga, Wendlandt, Erik, Toydemir, Reha M., South, Sarah, Perkins, Sherrie L., Hussong, Jerry W., Zhan, Fenghuang

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DNA copy number analysis of Grade II–III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status Yazar: Cohen, Adam, Sato, Mariko, Aldape, Kenneth, Mason, Clinton C., Alfaro-Munoz, Kristin, Heathcock, Lindsey, South, Sarah T., Abegglen, Lisa M., Schiffman, Joshua D., Colman, Howard

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Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions Yazar: Hensel, Charles, Vanzo, Rena, Martin, Megan, Dixon, Sean, Lambert, Christophe, Levy, Brynn, Nelson, Lesa, Peiffer, Andy, Ho, Karen S., Rushton, Patricia, Serrano, Moises, South, Sarah, Ward, Kenneth, Wassman, Edward

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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome Yazar: Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, Carey, John C, Quarrell, Oliver

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Transcript Level Alterations Reflect Gene Dosage Effects Across Multiple Tissues in a Mouse Model of Down Syndrome Yazar: Kahlem, Pascal, Sultan, Marc, Herwig, Ralf, Steinfath, Matthias, Balzereit, Daniela, Eppens, Barbara, Saran, Nidhi G., Pletcher, Mathew T., South, Sarah T., Stetten, Gail, Lehrach, Hans, Reeves, Roger H., Yaspo, Marie-Laure

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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome Yazar: Ho, Karen S, South, Sarah T, Lortz, Amanda, Hensel, Charles H, Sdano, Mallory R, Vanzo, Rena J, Martin, Megan M, Peiffer, Andreas, Lambert, Christophe G, Calhoun, Amy, Carey, John C, Battaglia, Agatino

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Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... Yazar: Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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