Bilaketaren emaitzak - Spinner, Nancy B

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

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

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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential nork 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 nork Lu, Fengmin, Morrissette, Jennifer J. D., Spinner, Nancy B.

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

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Clinical utility gene card for: Alagille Syndrome (ALGS) nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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... nork 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 nork 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 nork 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 nork Kaur, Maninder, DeScipio, Cheryl, McCallum, Jennifer, Yaeger, Dinah, Devoto, Marcella, Jackson, Laird G., Spinner, Nancy B., Krantz, Ian D.

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