Resultados da busca - Spinner, Nancy B

CADASIL: Notch signaling defect or protein accumulation problem? por Spinner, Nancy B.

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Alagille syndrome: Genetics and Functional Models por Gilbert, Melissa A., Spinner, Nancy B.

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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential por Tayoun, Ahmad Abou, Krock, Bryan, Spinner, Nancy B.

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Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage por Lu, Fengmin, Morrissette, Jennifer J. D., Spinner, Nancy B.

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Notch signaling in human development and disease por Penton, Andrea L., Leonard, Laura D., Spinner, Nancy B.

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Clinical utility gene card for: Alagille Syndrome (ALGS) por Leonard, Laura D, Chao, Grace, Baker, Alastair, Loomes, Kathleen, Spinner, Nancy B

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Unique forms of human and mouse nuclear receptor corepressor SMRT por Ordentlich, Peter, Downes, Michael, Xie, Wen, Genin, Anna, Spinner, Nancy B., Evans, Ronald M.

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Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood por Shackelford, Amy L., Conlin, Laura K., Hummel, Marybeth, Spinner, Nancy B., Wenger, Sharon L.

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A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice por Reiff, Marian, Mueller, Rebecca, Mulchandani, Surabhi, Spinner, Nancy B., Pyeritz, Reed E., Bernhardt, Barbara A.

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Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution por Lalonde, Emilie, Rentas, Stefan, Lin, Fumin, Dulik, Matthew C., Skraban, Cara M., Spinner, Nancy B.

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A Longitudinal Study to Identify Laboratory Predictors of Liver Disease Outcome in Alagille Syndrome por Kamath, Binita M., Munoz, Pedro S., Bab, Natalie, Baker, Alastair, Chen, Zhongxue, Spinner, Nancy B., Piccoli, David A.

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“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing por Reiff, Marian, Bernhardt, Barbara A., Mulchandani, Surabhi, Soucier, Danielle, Cornell, Diana, Pyeritz, Reed E., Spinner, Nancy B.

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Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders por Reiff, Marian, Giarelli, Ellen, Bernhardt, Barbara A., Easley, Ebony, Spinner, Nancy B., Sankar, Pamela L., Mulchandani, Surabhi

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An 18-Year Follow-Up Report on an Infant With a Duplication of 9q34 por Youngs, Erin L., McCord, Timothy, Hellings, Jessica A., Spinner, Nancy B., Schneider, Adele, Butler, Merlin G.

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Physicians’ Perspectives on the Uncertainties and Implications of Chromosomal Microarray Testing of Children and Families por Reiff, Marian, Ross, Kathryn, Mulchandani, Surabhi, Propert, Kathleen Joy, Pyeritz, Reed E., Spinner, Nancy B., Bernhardt, Barbara A.

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Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes por Schindler, Emma A., Gilbert, Melissa A., Piccoli, David A., Spinner, Nancy B., Krantz, Ian D., Loomes, Kathleen M.

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Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With... por DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.

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Exome Sequencing in Individuals with Isolated Biliary Atresia por Rajagopalan, Ramakrishnan, Tsai, Ellen A., Grochowski, Christopher M., Kelly, Susan M., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella

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NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway por McDaniell, Ryan, Warthen, Daniel M., Sanchez-Lara, Pedro A., Pai, Athma, Krantz, Ian D., Piccoli, David A., Spinner, Nancy B.

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Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome por Kaur, Maninder, DeScipio, Cheryl, McCallum, Jennifer, Yaeger, Dinah, Devoto, Marcella, Jackson, Laird G., Spinner, Nancy B., Krantz, Ian D.

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