نتائج البحث - Cheryl DeScipio
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Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping حسب Natalie Banet, Cheryl DeScipio, Kathleen M. Murphy, Katie Beierl, Emily Adams, Russell Vang, Brigitte M. Ronnett
منشور في 2013Artigo -
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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations حسب Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson, Ian D. Krantz
منشور في 2004Artigo -
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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B حسب Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A. Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A. Morris, Małgorzata J.M. Nowaczyk, Helga V. Toriello, Michael J. Bamshad, John C. Carey, Eric Rappaport, Shimako Kawauchi, Arthur D. Lander, Anne L. Calof, Hui-hua Li, Marcella Devoto, Laird G. Jackson
منشور في 2004Artigo -
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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization حسب Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Līvija Medne, Rosemarie Rupps, Alvaro Serrano, Erik C. Thorland, Anne Chun‐Hui Tsai, Yvonne Hilhorst‐Hofstee, Claudia Ruivenkamp, Hilde Van Esch, Marie‐Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz
منشور في 2012Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Genotype
Chromosome
Cornelia de Lange Syndrome
Genotyping
Gynecology
Immunohistochemistry
Medicine
Pathology
Biochemistry
Immunostaining
Mutation
Phenotype
Proband
Chromatid
Consensus conference
Copy-number variation
Drosophila melanogaster
Establishment of sister chromatid cohesion
Fetus
Gene expression
Genome
Genotype-phenotype distinction
Gestation
Gold standard (test)
Hypotonia
Immunology
In vitro