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المؤلفون: Amir Ben-Dor, Jong Il Kim, Peter Tsang, George H. Perry, Stephen Laderman, Nick Sampas, Laia Rodriguez-Revenga, Charles W. Tran, Jeong-Sun Seo, Israel Steinfeld, Han Soo Park, Anya Tsalenko, Zohar Yakhini, N. Alice Yamada, Laurakay Bruhn, Charles Lee, Alicia F. Scheffer
المصدر: The American Journal of Human Genetics. 82(3):685-695
مصطلحات موضوعية: Gene Dosage, Biology, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, Genetics, Humans, Genetics(clinical), Copy-number variation, International HapMap Project, Genetics (clinical), Oligonucleotide Array Sequence Analysis, 030304 developmental biology, Genetic association, 0303 health sciences, Genome, Human, Genetic Variation, Human genetics, Tandem Repeat Sequences, Evolutionary biology, 030220 oncology & carcinogenesis, Human genome, Comparative genomic hybridization
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المؤلفون: Colin Collins, Alicia F. Scheffer, Laurakay Bruhn, Shivaranjani Sridharan, Anya Tsalenko, Pamela L. Paris
المصدر: The Prostate. 67:1447-1455
مصطلحات موضوعية: Male, Chromosomes, Artificial, Bacterial, Urology, Genomics, Computational biology, Biology, Article, Nucleic acid thermodynamics, chemistry.chemical_compound, Prostate, medicine, Humans, Biomarker discovery, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, Oligonucleotide, Chromosome Mapping, Nucleic Acid Hybridization, Prostatic Neoplasms, DNA, Neoplasm, Molecular biology, genomic DNA, medicine.anatomical_structure, Oncology, chemistry, DNA, Comparative genomic hybridization
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المؤلفون: Michael T. Barrett, Robert Kincaid, Paul S. Meltzer, Alicia F. Scheffer, Kristin Baird, Nick Sampas, Doron Lipson, Zohar Yakhini, Bo Curry, Stephen Laderman, Laurakay Bruhn, Peter Tsang, Amir Ben-Dor
المصدر: Proceedings of the National Academy of Sciences. 101:17765-17770
مصطلحات موضوعية: Male, Biology, Sensitivity and Specificity, Genome, Cell Line, Complementary DNA, Humans, X chromosome, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, Genetics, Multidisciplinary, Gene Expression Profiling, Homozygote, Nucleic Acid Hybridization, DNA, Biological Sciences, Amplicon, genomic DNA, Research Design, Female, DNA microarray, Gene Deletion, Virtual karyotype, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d6482ace21381788745201a3385d1c
https://doi.org/10.1073/pnas.0407979101 -
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المؤلفون: M.C. Sederberg, Lyndsey Rector, Nick Sampas, A. Tsalenko, L. Bruhn, B. Peter, P. Tsang, R.A. Ach, M.E. Aston, Alicia F. Scheffer, Nazumi Alice Yamada, Arthur R. Brothman, E. Carr
المصدر: Cytogenetic and genome research. 132(4)
مصطلحات موضوعية: Male, In silico, Computational biology, Biology, Genome, Segmental Duplications, Genomic, Gene duplication, Chromosome Duplication, Genetics, medicine, Chromosomes, Human, Humans, Molecular Biology, Metaphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, medicine.diagnostic_test, Oligonucleotide, Genome, Human, Sequence Inversion, Sequence Analysis, DNA, Visualization, Human genome, Fluorescence in situ hybridization
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المؤلفون: N. Alice Yamada, Richard J. Ellis, Stephen Laderman, Zohar Yakhini, Alicia F. Scheffer, Peter Tsang, Nick Sampas, Amir Ben-Dor, Laurakay Bruhn, Philippe Froguel, Alexandra I. F. Blakemore, Adam J. de Smith, Anya Tsalenko
المصدر: Human molecular genetics. 16(23)
مصطلحات موضوعية: Adult, Male, Gene Dosage, Biology, Genome, Genetic variation, Genetics, OMIM : Online Mendelian Inheritance in Man, Humans, Copy-number variation, Molecular Biology, Gene, Genetics (clinical), Genetic association, DNA Primers, Oligonucleotide Array Sequence Analysis, Base Sequence, Genetic Variation, General Medicine, Middle Aged, White (mutation), Phenotype, France, Databases, Nucleic Acid, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8554b47fcb82461eeb20d2b68b0418b2
https://pubmed.ncbi.nlm.nih.gov/17666407 -
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المؤلفون: Jamie Fisher, Aimee Abu-Shamsieh, Condie E. Carmack, Sarah T. South, Teresa Maxwell, Annika M. Svensson, Alicia F. Scheffer, Heidi Whitby, Emily Aston, Cynthia J. Curry, Arthur R. Brothman
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Microcephaly, Clinodactyly, Adolescent, Limb Deformities, Congenital, Biology, Gene mapping, Intellectual Disability, Genetics, medicine, Limb development, Humans, Abnormalities, Multiple, Syndactyly, Genetics (clinical), In Situ Hybridization, Fluorescence, medicine.diagnostic_test, Dysostosis, Nucleic Acid Hybridization, Anatomy, medicine.disease, Chromosomes, Human, Pair 2, Female, medicine.symptom, Chromosome Deletion, Fluorescence in situ hybridization, Comparative genomic hybridization