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المؤلفون: Robert E. Ferrell, Adam M. Brufsky, Stephen D. Meriney, Eleanor Feingold, Elizabeth C. Lawrence, Mark A. Kimak, Diana Huang, Jenny M. Karlsson, Diana Campbell, Sarah E. Noon, Shelley Perschke, Kelly Z. Knickelbein, Catherine J. Baty, David N. Finegold
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e7d3c0951a98c5a748fc3893da4fb48
https://doi.org/10.1158/1078-0432.c.6520118 -
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المؤلفون: Robert E. Ferrell, Adam M. Brufsky, Stephen D. Meriney, Eleanor Feingold, Elizabeth C. Lawrence, Mark A. Kimak, Diana Huang, Jenny M. Karlsson, Diana Campbell, Sarah E. Noon, Shelley Perschke, Kelly Z. Knickelbein, Catherine J. Baty, David N. Finegold
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8c4fa77a07b6b100f55db43a4017ed
https://doi.org/10.1158/1078-0432.22444250.v1 -
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المؤلفون: Robert E. Ferrell, Adam M. Brufsky, Stephen D. Meriney, Eleanor Feingold, Elizabeth C. Lawrence, Mark A. Kimak, Diana Huang, Jenny M. Karlsson, Diana Campbell, Sarah E. Noon, Shelley Perschke, Kelly Z. Knickelbein, Catherine J. Baty, David N. Finegold
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1008e73705daa31b7325f91e0e0aae59
https://doi.org/10.1158/1078-0432.22444253 -
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المؤلفون: Robert E. Ferrell, Adam M. Brufsky, Stephen D. Meriney, Eleanor Feingold, Elizabeth C. Lawrence, Mark A. Kimak, Diana Huang, Jenny M. Karlsson, Diana Campbell, Sarah E. Noon, Shelley Perschke, Kelly Z. Knickelbein, Catherine J. Baty, David N. Finegold
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd795883198e75e2dbc521d0d9f34154
https://doi.org/10.1158/1078-0432.22444256.v1 -
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المؤلفون: Soma Das, Jennifer A. Lee, Amy K. Johnson, Jennifer Burton, Sandra Tremblay, Ying Ying Hu, Daniela del Gaudio, Kirsten Donato, Daniel B. Magner, Zejuan Li, Sarah E. Noon, Ian D. Krantz, Rachel Laframboise, Brett Deml, Jacea Deml, George E. Hoganson, Christian P. Schaaf, Maria Helgeson, Jennifer Keller-Ramey
المصدر: Journal of Human Genetics. 63:349-356
مصطلحات موضوعية: 0301 basic medicine, Cornelia de Lange Syndrome, DNA Copy Number Variations, Cohesin complex, Copy number analysis, SMC1A, Biology, Histone Deacetylases, Chromosome Breakpoints, 03 medical and health sciences, Germline mutation, X Chromosome Inactivation, De Lange Syndrome, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Child, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Comparative Genomic Hybridization, Base Sequence, Facies, NIPBL, Exons, Sequence Analysis, DNA, medicine.disease, Repressor Proteins, Phenotype, 030104 developmental biology, Child, Preschool, Female
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المؤلفون: Alisha Wilkens, Sarah E. Noon, Yaning Wu, Ian D. Krantz, Emily Schwartz
المصدر: American Journal of Medical Genetics Part A. 173:809-812
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, Dental anomalies, 030104 developmental biology, business.industry, Point mutation, Mutation (genetic algorithm), Medicine, business, Genetics (clinical)
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المؤلفون: Blake D. Hansen, Sylvia A. Huisman, Lynne M. Kerr, Ian D. Krantz, Matthew A. Deardorff, Jason A. Mills, Alena Egense, Jeremy Morgan, Meng Wu, Dale Dorsett, Devanshi Mehta, Olivia L. Katz, Katsuhiko Shirahige, Sarah E. Noon, Chiara Bettale, Pamela S. Herrera, Richard E. Haaland, Joseph P. McCleery, Antonie D. Kline, Cheri S. Carrico, Jo Moss, Siddharth Srivastava, Emily Taylor-Snell, Jennifer L. Gerton, Marco A. Grados, Antonio Musio, Anne L. Calof, Julia A. Horsfield
المساهمون: Amsterdam Neuroscience - Complex Trait Genetics, Other departments
المصدر: American journal of medical genetics. Part A, 173(5), 1172-1185. Wiley-Liss Inc.
مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Cornelia de Lange Syndrome, Cohesin complex, Genetic counseling, Diagnostic test, medicine.disease, Medical care, Article, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Autism, Psychiatry, Genetics (clinical)
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المؤلفون: Ian D. Krantz, Sarah E. Noon, Matthew A. Deardorff
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:72-75
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030219 obstetrics & reproductive medicine, 0302 clinical medicine, Philosophy, Genetics, History, 20th Century, 030105 genetics & heredity, History, 21st Century, Molecular Biology, United States, Genetics (clinical), Classics
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المؤلفون: Matthew A. Deardorff, Ian D. Krantz, Zhe Zhang, Devanshi Mehta, Maninder Kaur, Sarah E. Noon
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:163-170
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Cornelia de Lange Syndrome, Cohesin complex, Cohesin, Genetic heterogeneity, NIPBL, 030105 genetics & heredity, Biology, SMC1A, medicine.disease_cause, medicine.disease, Establishment of sister chromatid cohesion, 03 medical and health sciences, 030104 developmental biology, medicine, Genetics (clinical)
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المؤلفون: Matthew A. Deardorff, Samantha A. Schrier Vergano, Drew M. Johnson, Sarah E. Noon, Sarika Aggarwal, Devanshi Mehta, Nathan F. Miller, Ian D. Krantz, Laird G. Jackson, Akash Barot, Maninder Kaur
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:155-162
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Cornelia de Lange Syndrome, Genetic counseling, Limb Deformities, Congenital, Congenital Abnormalities, 03 medical and health sciences, Forearm, De Lange Syndrome, Genetics, medicine, Humans, Upper Extremity Deformities, Congenital, Syndactyly, Child, Genetics (clinical), Retrospective Studies, business.industry, NIPBL, Anatomy, medicine.disease, Hypoplasia, body regions, Developmental disorder, 030104 developmental biology, medicine.anatomical_structure, Mutation, Etiology, Cognition Disorders, business, Lower Extremity Deformities, Congenital