Výsledky vyhledávání - Kay, Denise M

Visualizing Disease Associations: Graphic Analysis of Frequency Distributions as a Function of Age Using Moving Average Plots (MAP) with Application to Alzheimer's and Parkinson's... Autor Payami, Haydeh, Kay, Denise M., Zabetian, Cyrus P., Schellenberg, Gerard D., Factor, Stewart A., McCulloch, Colin C.

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Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening Autor Sicko, Robert J., Stevens, Colleen F., Hughes, Erin E., Leisner, Melissa, Ling, Helen, Saavedra-Matiz, Carlos A., Caggana, Michele, Kay, Denise M.

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Folate and Vitamin B12 Related Genes and Risk for Omphalocele Autor Mills, James L., Carter, Tonia C., Kay, Denise M., Browne, Marilyn, Brody, Lawrence C., Liu, Aiyi, Romitti, Paul A., Caggana, Michele, Druschel, Charlotte

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Disease-related and genetic correlates of psychotic symptoms in Parkinson's disease Autor Factor, Stewart A., Steenland, N. Kyle, Higgins, Donald S., Molho, Eric S., Kay, Denise M., Montimurro, Jennifer, Rosen, Ami R., Zabetian, Cyrus P., Payami, Haydeh

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Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls Autor Sicko, Robert J., Romitti, Paul A., Browne, Marilyn L., Brody, Lawrence C., Stevens, Colleen F., Mills, James L., Caggana, Michele, Kay, Denise M.

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Evaluation of Genes Involved in Limb Development, Angiogenesis, and Coagulation as Risk Factors for Congenital Limb Deficiencies Autor Browne, Marilyn L., Carter, Tonia C., Kay, Denise M., Kuehn, Devon, Brody, Lawrence C., Romitti, Paul A., Liu, Aiyi, Caggana, Michele, Druschel, Charlotte M., Mills, James L.

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Copy number variants in Ebstein anomaly Autor Giannakou, Andreas, Sicko, Robert J., Zhang, Wei, Romitti, Paul, Browne, Marilyn L., Caggana, Michele, Brody, Lawrence C., Jelliffe-Pawlowski, Laura, Shaw, Gary M., Kay, Denise M., Mills, James L.

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Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation Autor Carter, Tonia C., Kay, Denise M., Browne, Marilyn L., Liu, Aiyi, Romitti, Paul A., Kuehn, Devon, Conley, Mary R., Caggana, Michele, Druschel, Charlotte M., Brody, Lawrence C., Mills, James L.

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Anorectal atresia and variants at predicted regulatory sites in candidate genes Autor Carter, Tonia C., Kay, Denise M., Browne, Marilyn L., Liu, Aiyi, Romitti, Paul A., Kuehn, Devon, Conley, Mary R., Caggana, Michele, Druschel, Charlotte M., Brody, Lawrence C., Mills, James L.

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Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways Autor Sicko, Robert J., Browne, Marilyn L., Rigler, Shannon L., Druschel, Charlotte M., Liu, Gang, Fan, Ruzong, Romitti, Paul A., Caggana, Michele, Kay, Denise M., Brody, Lawrence C., Mills, James L.

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Rare Copy Number Variants in a Population Based Investigation of Hypoplastic Right Heart Syndrome Autor Dimopoulos, Aggeliki, Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Druschel, Charlotte M., Caggana, Michele, Browne, Marilyn L., Fan, Ruzong, Romitti, Paul A., Brody, Lawrence C., Mills, James L.

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Novel copy-number variants in a population-based investigation of classic heterotaxy Autor Rigler, Shannon L., Kay, Denise M., Sicko, Robert J., Fan, Ruzong, Liu, Aiyi, Caggana, Michele, Browne, Marilyn L., Druschel, Charlotte M., Romitti, Paul A., Brody, Lawrence C., Mills, James L.

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Copy Number Variants in a Population-Based Investigation of Klippel–Trenaunay Syndrome Autor Dimopoulos, Aggeliki, Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Fan, Ruzong, Romitti, Paul A., Browne, Marilyn L., Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.

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Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype Autor Chasseloup, Fanny, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Keil, Margaret F, Chittiboina, Prashant, Kay, Denise M, Hussein Tayeb, Tara, Stratakis, Constantine A, Mills, James L, Hernández-Ramírez, Laura C

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Corticotropinoma as a Component of Carney Complex Autor Hernández-Ramírez, Laura C., Tatsi, Christina, Lodish, Maya B., Faucz, Fabio R., Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Valdés, Nuria, Dimopoulos, Aggeliki, Mills, James L., Stratakis, Constantine A.

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Copy-number variants and candidate gene mutations in isolated split hand/foot malformation Autor Carter, Tonia C., Sicko, Robert J., Kay, Denise M., Browne, Marilyn L., Romitti, Paul A., Edmunds, Zoë L., Liu, Aiyi, Fan, Ruzong, Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.

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Association Analysis of MAPT H1 Haplotype and Subhaplotypes in Parkinson’s Disease Autor Zabetian, Cyrus P., Hutter, Carolyn M., Factor, Stewart A., Nutt, John G., Higgins, Donald S., Griffith, Alida, Roberts, John W., Leis, Berta C., Kay, Denise M., Yearout, Dora, Montimurro, Jennifer S., Edwards, Karen L., Samii, Ali, Payami, Haydeh

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Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis Autor Fadista, João, Skotte, Line, Geller, Frank, Bybjerg-Grauholm, Jonas, Gørtz, Sanne, Romitti, Paul A, Caggana, Michele, Kay, Denise M, Matsson, Hans, Boyd, Heather A, Hougaard, David M, Nordenskjöld, Agneta, Mills, James L, Melbye, Mads, Feenstra, Bjarke

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Lack of evidence for an association between UCHL1 S18Y and Parkinson’s disease Autor Hutter, Carolyn M., Samii, Ali, Factor, Stewart A., Nutt, John G., Higgins, Donald S., Bird, Thomas D., Griffith, Alida, Roberts, John W., Leis, Berta C., Montimurro, Jennifer S., Kay, Denise M., Edwards, Karen L., Payami, Haydeh, Zabetian, Cyrus P.

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Rare copy number variants identified in prune belly syndrome Autor Boghossian, Nansi S., Sicko, Robert J., Giannakou, Andreas, Dimopoulos, Aggeliki, Caggana, Michele, Tsai, Michael Y., Yeung, Edwina H., Pankratz, Nathan, Cole, Benjamin R., Romitti, Paul A., Browne, Marilyn L., Fan, Ruzong, Liu, Aiyi, Kay, Denise M., Mills, James L.

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