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المؤلفون: Dominic J. McMullan, Jenny Elizabeth Morton, Chirag Patel, Judith M. Walker, Lisa Cooper-Charles, Val Davison
المصدر: European Journal of Human Genetics. 19:634-639
مصطلحات موضوعية: Male, Candidate gene, Tics, Apraxias, Cystic Fibrosis Transmembrane Conductance Regulator, Translocation Breakpoint, Biology, Tourette syndrome, Article, Translocation, Genetic, Chromosome Breakpoints, Exon, Gene mapping, Endopeptidases, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, Comparative Genomic Hybridization, Breakpoint, Forkhead Transcription Factors, FOXP2, DNA, Exons, medicine.disease, Pedigree, Chromosomes, Human, Pair 7, Tourette Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd52f5af9826a5f282229c011e8a9c7eTest
https://doi.org/10.1038/ejhg.2010.238Test -
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المؤلفون: Richard M. Barber, Cyril Chapman, Fatimah Rahman, Salwati Shuib, Farida Latif, Val Davison, Malgosia Zatyka, Dominic J. McMullan, Eleanor Rattenberry, Eamonn R. Maher, Fiona Macdonald
المصدر: American Journal of Medical Genetics Part A. :2099-2105
مصطلحات موضوعية: Heart Defects, Congenital, Candidate gene, Genotype, Microarray, Gene Dosage, Telecanthus, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Gene mapping, Intellectual Disability, Genetics, medicine, Humans, SNP, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Psychomotor retardation, Gene Expression Profiling, GTPase-Activating Proteins, Syndrome, Penetrance, Phenotype, Chromosome 3, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8a3f430104592a7dc748a726acaf3c3Test
https://doi.org/10.1002/ajmg.a.32824Test -
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المؤلفون: Pramila Ramani, Carmel McConville, Shaheen A. Chughtai, Dominic J. McMullan, J. E. Powell, Val Davison, Sara Dyer, Tracey Genus
المصدر: European Journal of Cancer. 42:1826-1834
مصطلحات موضوعية: Adult, Cancer Research, Pathology, medicine.medical_specialty, Adolescent, Genotype, Loss of Heterozygosity, Disease, Biology, Malignancy, Loss of heterozygosity, Neuroblastoma, medicine, Humans, Stage (cooking), Child, Allelotype, neoplasms, Aged, Infant, Newborn, Infant, Cancer, Middle Aged, medicine.disease, Survival Analysis, Phenotype, Oncology, Child, Preschool, Disease Progression, Cancer research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe5df5982dbf232a902b3be2bf3c5c7Test
https://doi.org/10.1016/j.ejca.2006.03.016Test -
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المؤلفون: Farida Latif, Beeling Ng, Mark R. Morris, Takeshi Kishida, Mahera Abdulrahman, Masahiro Yao, Susan M. Gribble, Rebecca E. Foster, Nigel P. Carter, Michael S. Wiesener, Steven Ready, Eamonn R. Maher, Dean Gentle, José Luis Barbero, Elena Prigmore, Phil M. T. Weston, Val Davison, Carol Chu
مصطلحات موضوعية: Male, Cancer Research, Candidate gene, Tumor suppressor gene, Molecular Sequence Data, Chromosomal translocation, Biology, medicine.disease_cause, urologic and male genital diseases, Article, Translocation, Genetic, Exon, Genetics, medicine, Humans, neoplasms, Carcinoma, Renal Cell, Cell Line, Transformed, Middle Aged, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Clear cell renal cell carcinoma, Chromosome 3, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 3, Carcinogenesis, Clear cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::717a74a1fdeb84da347ded2114376fabTest
https://europepmc.org/articles/PMC2695133Test/ -
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المؤلفون: Lisbeth Tranebjerg, Zeynep Tümer, Iben Bache, Maria Orera, Vera M. Kalscheuer, Elisabeth Blennow, Val Davison, Klaus Wagner, David R. FitzPatrick, Isidora Lopez-Pajares, Laurence Duprez, Maj Hultén, Sultan Cingoz, Sophie Dahoun, Niels Tommerup, Margarita Stefanova, Ingo Hansmann, Jan Murken, Maryse Bonduelle, Bruno Dallapiccola, M.-F. Croquette, Tony Parkin, Kirsten Winther, Kim Smith, Fiorella Shabtai, Kirsten Rasmussen, Catherine Turleau, Claes Lundsteen, Anita Niebuhr, Elvire Van Assche, Gotthold Barbi, Eberhard Schwinger, Carl Birger van der Hagen, Bruno Delobel, Philippe Jonveaux, Nadja Kokalj Vokac, Peter Jensen, Inge Liebaers, Mads F. Hjorth, Georges Bourrouillou, Merete Bugge, Carmen Ramos, Regine Schubert, Leopoldo Zelante, Werner Schempp, Eberhard Passarge, Carmen Ayuso, Herman Tournaye, James Lespinasse, Malcolm A. Ferguson-Smith, Ulf Kristoffersson, Jan Wahlstroem, Gert Bruun-Petersen, Hans-Christoph Duba, Karen Brøndum-Nielsen, Michel Vekemans, Elizabeth Grace, Raymond L. Stallings, Jean McGowan-Jordan
المصدر: University of Copenhagen
مصطلحات موضوعية: Infertility, Genetics, Chromosome Aberrations, Male, medicine.medical_specialty, Cytogenetics, Chromosome, Chromosomal translocation, Karyotype, Locus (genetics), Oligospermia, Biology, medicine.disease, Translocation, Genetic, Male infertility, Chromosomes, Human, Pair 1, Chromosome Inversion, medicine, Humans, Genetics (clinical), Infertility, Male, Chromosomal inversion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e7b3a73407cfbd694bd1f4fa97aaa8Test
https://avesis.deu.edu.tr/publication/details/290330f0-f425-49bd-b49a-b4246cce8d2e/oaiTest -
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المؤلفون: Pramila Ramani, Paul Davies, Richard Grundy, Sara Dyer, Emma Prebble, Val Davison, David W. Ellison
المصدر: The American journal of pathology. 161(6)
مصطلحات موضوعية: Ependymoma, Oncology, Adult, Male, medicine.medical_specialty, Pathology, Multivariate analysis, Adolescent, Biology, Chromosomes, Pathology and Forensic Medicine, Internal medicine, medicine, Humans, Pediatric ependymoma, Genetic Testing, Child, Survival rate, Genetic testing, Proportional Hazards Models, Chromosome Aberrations, medicine.diagnostic_test, Proportional hazards model, Brain Neoplasms, Cytogenetics, Infant, Nucleic Acid Hybridization, DNA, Neoplasm, medicine.disease, Survival Rate, Treatment Outcome, Child, Preschool, Female, Chromosome Deletion, Comparative genomic hybridization, Regular Articles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b046ed6eb2b7dc2166952ff614c1f8a6Test
https://pubmed.ncbi.nlm.nih.gov/12466129Test -
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المؤلفون: Magdi Hanafy, Kathryn Pritchard-Jones, Dick Variend, David E. Barton, Val Davison, Jem Berry, Derek J. King, Mary Gerrard, Fatima Abidi, Michael R. Stratton, Elizabeth Gray, Annette Ridolfi Luethy, Ian Lewis, Steven A. Narod, D Ford, Elizabeth A. Rapley, Gillian Batcup, Richard Grundy, Mark H. Skolnick, Charles E. Schwartz, Jill Mann, Louise C. Strong, Lisa Madlensky, Finbarr Cotter, Patricia N. Tonin, Tony Oakhill, Anne O'Meara, Laura Arbour, Nazneen Rahman
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Genetics, Genetic Markers, Male, Genes, Wilms Tumor, Genetic heterogeneity, Genetic Linkage, Locus (genetics), Wilms' tumor, Biology, medicine.disease, Wilms Tumor, Pedigree, Loss of heterozygosity, Phenotype, Gene mapping, Genetic linkage, Familial predisposition, medicine, Humans, Female, Lod Score, Genetics (clinical), Genetic association, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66e3f3b9b1c62d2988e87694e4cb171Test
https://pubmed.ncbi.nlm.nih.gov/9860296Test -
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المؤلفون: M. Fenton, Morgan McNamara, E. Val Davison, Clive Felix, Susan Kennedy
المصدر: Cancer genetics and cytogenetics. 98(1)
مصطلحات موضوعية: Adult, Male, Cancer Research, Pathology, medicine.medical_specialty, Monosomy, Population, Ocular Melanoma, Conjunctival Neoplasms, Biology, Genetics, medicine, Humans, education, neoplasms, Molecular Biology, Melanoma, In Situ Hybridization, Fluorescence, Aged, Aged, 80 and over, education.field_of_study, medicine.diagnostic_test, Choroid Neoplasms, Uvea, Middle Aged, medicine.disease, eye diseases, medicine.anatomical_structure, Chromosome 3, Immunology, Female, Chromosomes, Human, Pair 3, Conjunctival Melanoma, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acfc9983655286f5e17c6ba1154d8f9Test
https://pubmed.ncbi.nlm.nih.gov/9309111Test -
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المؤلفون: Winbin Wei, Jude Walker, Dom J. McMullan, Emma Prebble, Lucy Tomaney, Val Davison, Mike Griffiths
المصدر: European Journal of Medical Genetics. 48:519
مصطلحات موضوعية: Isodisomy, Proof of concept, Genetics, Copy number analysis, General Medicine, Computational biology, Biology, Bioinformatics, Genome, Genetics (clinical), SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b2d9cf84566e6a1d294757da2d3bdfecTest
https://doi.org/10.1016/j.ejmg.2005.10.097Test -
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المؤلفون: Laura P. O'Neill, Robert S. Illingworth, John A. Halsall, Val Davison, Edith Terrenoire, A. Malcolm R. Taylor, Bryan M. Turner, Paula Page, Fiona E. McRonald
المصدر: Terrenoire, E, McRonald, F, Halsall, J A, Page, P, Illingworth, R S, Taylor, A M R, Davison, V, O'Neill, L P & Turner, M 2010, ' Immunostaining of modified histones defines high-level features of the human metaphase epigenome ', Genome Biology, vol. 11, no. 11, R110, pp.-. https://doi.org/10.1186/gb-2010-11-11-r110Test
Genome Biologyمصطلحات موضوعية: Epigenomics, Male, Chromatin Immunoprecipitation, Mitosis, Cell Line, Epigenesis, Genetic, Histones, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Gene Silencing, Metaphase, 030304 developmental biology, 0303 health sciences, biology, Genome, Human, Research, Chromosome, Epigenome, Microarray Analysis, Chromatin, Histone, Karyotyping, biology.protein, H3K4me3, CpG Islands, Female, Protein Processing, Post-Translational, Chromatin immunoprecipitation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::360ac1102b4405acc40bd6e204cde11cTest