Výsledky vyhledávání - Cheryl DeScipio
- Zobrazuji výsledky 1 - 7 z 7
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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations Autor 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
Vydáno 2004Artigo -
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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B Autor 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
Vydáno 2004Artigo -
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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization Autor 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
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
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