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1Academic Journal
المؤلفون: Alison Hills, Celia Donaghue, Jonathan Waters, Katie Waters, Caroline Sullivan, Abhijit Kulkarni, Zoe Docherty, Kathy Mann, Caroline Mackie Ogilvie
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1060.5941; http://www.uhbristol.nhs.uk/media/2284297/hills_pcr.pdf
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2Academic Journal
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/10/41/Mol_Cytogenet_2008_Mar_26_1_2.tar.gz
وصف الملف: application/zip
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المؤلفون: Angela J. Marlow, Anthony Cox, Andrew Pickles, Patrick Bolton, Elaine Thompson, Lisa Chrzanowski, Pat Scudder, Kim S. Beyer, Jeanne Fremolle-Kruck, Ros Packer, Anthony P. Monaco, Annemarie Poustka, Janine Michelotti, Axel Benner, Karen Brøndum-Nielsen, Michael Rutter, Christina Corsello, Elizabeth P. Green, Tom Berney, Jane Whittacker, Fred R. Volkmar, Bennett L. Leventhal, Catherine Wainhouse, Simon Wallace, Maretha de Jonge, Elena Maestrini, Sabine M. Klauck, Claire Garner, Catherine Pienkowski, Ramyani Gupta, Alina Paul, David L. Pauls, Chantal Kemner, Edwin H. Cook, Katerina Papanikolaou, Marie Thérèse Tauber, Eric Fombonne, Pamela Warburton, Catherine Lord, Lennart Pedersen, Jonathan Green, Thomas Kelly, Amaia Hervas, Bernadette Rogé, Helen McConachie, Sabine Feineis-Matthews, Sabine Epp, Gillian Baird, Anne Aubin, Rodney M. J. Cotterill, Fritz Poustka, Janette Moore, Amy Liu, Martha Turner, Daniel E. Weeks, Janine A. Lamb, Julia Bailey, Martha Dedricks, John Tsiantis, Sven Bölte, Jennifer G. Levitt, Sarah Palferman, Gabriele Schmötzer, Nicola Matthews, Zoe Docherty, Gabrielle Barnby, Stephen Abbs, Susan L. Smalley, Bryan Bolton, Ann Le Couteur, Marianne Murin, Herman van Engeland, Dorothea Rühl, Petrus J. de Vries, Stephen J. Guter, Anthony J. Bailey, Demetrious Haracopos, Gunna Eriksen, Anne Gilchrist
المصدر: ResearcherID
مصطلحات موضوعية: Genetic Markers, Male, Linkage disequilibrium, Genotype, Genetic Linkage, Biology, Polymerase Chain Reaction, Neurodevelopmental disorder, Genetic linkage, Genetics, medicine, Genetic predisposition, Chromosomes, Human, Humans, Allele, Autistic Disorder, Molecular Biology, Genetics (clinical), Alleles, Linkage (software), Linkage Disequilibrium Mapping, Chromosome Mapping, General Medicine, medicine.disease, Genetic marker, Female, Disease Susceptibility, Chromosomes, Human, Pair 7
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المؤلفون: Caroline Langman, Zsofia Kote-Jarai, A Georgiou, Rosalind A. Eeles, I Kesterton, Imogen Locke, Ashi Salmon, Richard Camplejohn, Elizabeth Bancroft, Shirley Hodgson, Audrey Arden-Jones, J Berg, Zoe Docherty, Laurent Pangon, Ellen Solomon, J Barwell, Joanna R. Morris
المصدر: International Journal of Cancer. 121:1631-1636
مصطلحات موضوعية: Adult, G2 Phase, Heterozygote, Cancer Research, medicine.medical_specialty, Time Factors, endocrine system diseases, DNA repair, Lymphocyte, Apoptosis, Breast Neoplasms, Biology, medicine.disease_cause, S Phase, Breast cancer, medicine, Humans, Genetic Predisposition to Disease, Lymphocytes, Radiosensitivity, skin and connective tissue diseases, BRCA2 Protein, Mutation, BRCA1 Protein, Cell Cycle, Cytogenetics, Cancer, Chromosome Breakage, medicine.disease, Kinetics, medicine.anatomical_structure, Oncology, Cancer research, Female, Chromosome breakage
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المؤلفون: Laurent Pangon, Sarah Rose, Jonathan Berg, Shirley Hodgson, J Barwell, Richard Camplejohn, Caroline Langman, Zoe Docherty, Jan Ball, Anne Georgiou, Ian Kesterton, Ruth Gilchrist
المصدر: International Journal of Radiation Biology. 83:1-12
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Pathology, Neoplasms, Radiation-Induced, Time Factors, Lymphocyte, Apoptosis, Biology, Radiation Tolerance, Ionizing radiation, Breast cancer, Internal medicine, medicine, Chromosomes, Human, Humans, Radiology, Nuclear Medicine and imaging, Lymphocytes, Radiosensitivity, Family history, Radiation, Radiological and Ultrasound Technology, Chromosome, medicine.disease, medicine.anatomical_structure, Case-Control Studies, Female, Disease Susceptibility, Chromosome breakage
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المؤلفون: Celia Donaghue, Kathy Mann, Zoe Docherty, Caroline Mackie Ogilvie
المصدر: Prenatal Diagnosis. 25:65-72
مصطلحات موضوعية: Adult, medicine.medical_specialty, Down syndrome, Chromosomes, Human, Pair 21, Population, Aneuploidy, Trisomy, Prenatal diagnosis, Biology, Polymerase Chain Reaction, Fluorescence, Pregnancy, Prenatal Diagnosis, medicine, Chromosomes, Human, Humans, education, Cells, Cultured, Genetics (clinical), Gynecology, education.field_of_study, Chromosomes, Human, Pair 13, Mosaicism, Cytogenetics, Obstetrics and Gynecology, Karyotype, medicine.disease, Molecular biology, medicine.anatomical_structure, Chorionic Villi Sampling, Karyotyping, Amniocentesis, Chorionic villi, Female, Down Syndrome, Chromosomes, Human, Pair 18
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المؤلفون: Angela F. Davies, Caroline Mackie Ogilvie, Toby L. Kirby, Zoe Docherty
المصدر: American Journal of Medical Genetics. :483-489
مصطلحات موضوعية: Adult, Adolescent, Biology, Gene duplication, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 12, Chromosome Aberrations, Genetics, medicine.diagnostic_test, Infant, Newborn, Terminal Repeat Sequences, Infant, Chromosome, Middle Aged, Telomere, Subtelomere, Case-Control Studies, Child, Preschool, Human genome, Chromosome Deletion, Molecular probe, Fluorescence in situ hybridization
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المؤلفون: Caroline Mackie Ogilvie, Susan P Fox, Stephen J. Abbs, Shu Ching Yau, Zoe Docherty, Paul N. Scriven, Kathy Mann
المصدر: The Lancet. 358:1057-1061
مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, Obstetrics, Aneuploidy, Karyotype, Prenatal diagnosis, General Medicine, Biology, medicine.disease, Chromosome 18, medicine, Chromosome abnormality, Amniocentesis, Chromosome 21, Chromosome 13
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المؤلفون: Brian W. Jacobs, Kathleen Morris, Zoe Docherty, Shirley Hodgson, Pamela Warburton, Gillian Baird, Wai Chen
المصدر: American Journal of Medical Genetics. 96:228-234
مصطلحات موضوعية: Male, Genetic Linkage, Specific language impairment, Biology, Translocation, Genetic, Genetic determinism, medicine, Humans, Heritability of autism, Language disorder, Autistic Disorder, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 7 (human), Genetics, Language Disorders, Infant, medicine.disease, Twin study, Chromosome Banding, Pedigree, Developmental disorder, Phenotype, Child, Preschool, Karyotyping, Autism, Female, Chromosomes, Human, Pair 7
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c86cace4a860b8eef61071c9f990449
https://doi.org/10.1002/(sici)1096-8628(20000403)96:2<228::aid-ajmg20>3.0.co;2-g -
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المؤلفون: Iman Abusaad, Shehla Mohammed, Keith R.E. Pohl, Jane Ritchie, Caroline Mackie Ogilvie, Zoe Docherty
المصدر: American Journal of Medical Genetics. 87:354-359
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Copper metabolism, media_common.quotation_subject, Connective tissue, Chromosomal translocation, Disease, Biology, medicine.disease, Central nervous system disease, medicine.anatomical_structure, Endocrinology, Internal medicine, medicine, Menkes disease, Girl, Menkes' syndrome, Genetics (clinical), media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b6f94cbdaadbbd80099c80b6b41c183
https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<354::aid-ajmg14>3.0.co;2-y -
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المؤلفون: Sarah Hoang, Shehla Mohammed, Joo Wook Ahn, Kathy Mann, Caroline Mackie Ogilvie, Sally Walsh, Marwa Shehab, Zoe Docherty
المصدر: Molecular Cytogenetics, Vol 3, Iss 1, p 9 (2010)
Molecular Cytogeneticsمصطلحات موضوعية: Biochemistry, medical, medicine.medical_specialty, lcsh:QH426-470, business.industry, Research, First line, Biochemistry (medical), Cytogenetics, Karyotype, Computational biology, Bioinformatics, Biochemistry, Genome, Human genetics, Test (assessment), lcsh:Genetics, Chromosome analysis, Genetics, Molecular Medicine, Medicine, Objective test, Genetics(clinical), business, Molecular Biology, Genetics (clinical)
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المؤلفون: Philippa C, May, Caroline Mackie, Ogilvie, Shehla, Mohammed, Zoe, Docherty, Richard Peter, Hall
المصدر: Journal of the Association of Genetic Technologists. 34(4)
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المؤلفون: Katie S. Waters, Caroline Mackie Ogilvie, Kathy Mann, Zoe Docherty, Celia Donaghue, Jonathan J. Waters, Alison Hills, Caroline Sullivan, Abhijit Kulkarni
المصدر: Prenatal Diagnosis.
مصطلحات موضوعية: Down syndrome, medicine.medical_specialty, Aneuploidy, Chromosome Disorders, Prenatal diagnosis, Biology, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis, London, medicine, Humans, False Negative Reactions, Genetics (clinical), Retrospective Studies, Gynecology, Blood Specimen Collection, Obstetrics and Gynecology, Retrospective cohort study, Karyotype, medicine.disease, Research Design, Karyotyping, Chromosome abnormality, Female, Algorithms
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المصدر: American Journal of Medical Genetics. 96:15-17
مصطلحات موضوعية: Genetics, Pediatrics, medicine.medical_specialty, Mutation, Chromosome, Biology, medicine.disease, medicine.disease_cause, Genetic determinism, Developmental disorder, DiGeorge syndrome, medicine, Autism, 22q11 deletion, Chromosome 22, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ffed2f862a2ae8844c538ead428a5da
https://doi.org/10.1002/(sici)1096-8628(20000207)96:1<15::aid-ajmg5>3.0.co;2-m -
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المؤلفون: J Barwell, Richard Camplejohn, Jonathan Berg, I Kesterton, Laurent Pangon, J. P. Gardner, Tim D. Spector, Shirley Hodgson, A Georgiou, Bernet S. Kato, Zoe Docherty, D Paximadas, N Carter, Abraham Aviv, J Ball
المصدر: British Journal of Cancer
مصطلحات موضوعية: Oncology, Adult, Cancer Research, medicine.medical_specialty, Pathology, Colorectal cancer, Breast Neoplasms, Radiation Tolerance, Prostate cancer, Breast cancer, Internal medicine, medicine, Chromosomes, Human, Humans, Genetic Predisposition to Disease, Radiosensitivity, Lymphocytes, chromosome, Lung cancer, Aged, Aged, 80 and over, telomere, business.industry, breast cancer susceptibility, apoptosis, Cancer, Genetics and Genomics, Middle Aged, medicine.disease, radiosensitivity, Female, Skin cancer, Liver cancer, business
وصف الملف: application/pdf
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المؤلفون: Tessa Homfray, Laurent Pangon, Jon Smythe, J Barwell, Michelle Taylor, Shirley Hodgson, Richard Camplejohn, Ellen Solomon, Joanna R. Morris, A Georgiou, I Kesterton, Heike Brinkman, Zoe Docherty, Neil J. Sebire, S. J. Payne, Tina Slade
المصدر: Journal of medical genetics. 44(8)
مصطلحات موضوعية: Male, DNA Repair, Genotype, DNA damage, DNA repair, RAD51, Short Report, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Radiation Tolerance, Nuclear Family, Neoplasms, Genetics, medicine, Humans, Epigenetics, Genetics (clinical), Recombination, Genetic, Mutation, Genetic Carrier Screening, Lymphoma, Non-Hodgkin, Mismatch Repair Protein, Molecular biology, Pedigree, MutS Homolog 2 Protein, MSH2, Child, Preschool, DNA mismatch repair, Female, Rad51 Recombinase
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المؤلفون: John C. K. Barber, Amanda Clarkson, Caroline Mackie Ogilvie, Zoe Docherty, Ingrid Simonic, F. Lucy Raymond, Lionel Willatt
المصدر: European journal of human genetics : EJHG. 15(1)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Chromosomes, Artificial, Bacterial, Euchromatin, Adolescent, Centromere, Gene Dosage, Biology, Gene mapping, Gene duplication, Genetics, Humans, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Segmental duplication, Chromosome Aberrations, Phenotype, Deletion+duplication, Karyotyping, Cytogenetic Analysis, Female, Chromosomes, Human, Pair 9
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المؤلفون: Celia Donaghue, Zoe Docherty, Susan P Fox, Caroline Mackie Ogilvie, Kathy Mann
المصدر: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 53(3)
مصطلحات موضوعية: 0301 basic medicine, Down syndrome, medicine.medical_specialty, Histology, Chromosomes, Human, Pair 21, Aneuploidy, Prenatal diagnosis, Trisomy, Polymerase Chain Reaction, Fluorescence, 03 medical and health sciences, Prenatal Diagnosis, Turner syndrome, Medicine, Humans, Sex Chromosome Aberrations, Gynecology, Chromosomes, Human, X, Chromosomes, Human, Y, 030102 biochemistry & molecular biology, Chromosomes, Human, Pair 13, business.industry, Chromosome, medicine.disease, 030104 developmental biology, Chromosome abnormality, Female, Anatomy, Abnormality, Down Syndrome, business, Chromosomes, Human, Pair 18
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المصدر: Prenatal diagnosis. 25(1)
مصطلحات موضوعية: Adult, Amniotic fluid, Genotype, Aneuploidy, Prenatal diagnosis, Gestational Age, Biology, Polymerase Chain Reaction, Fluorescence, Specimen Handling, Pregnancy, Prenatal Diagnosis, medicine, Humans, Prospective Studies, Genotyping, False Negative Reactions, Maternal-Fetal Exchange, Genetics (clinical), Cells, Cultured, Mosaicism, Obstetrics and Gynecology, Karyotype, DNA, medicine.disease, Amniotic Fluid, Molecular biology, medicine.anatomical_structure, Chorionic Villi Sampling, Amniocentesis, Chorionic villi, Female, Trisomy
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المؤلفون: Kathy Mann, Caroline Mackie Ogilvie, Susan P Fox, Celia Donaghue, Zoe Docherty
المصدر: European journal of human genetics : EJHG. 12(11)
مصطلحات موضوعية: Genetic Markers, medicine.medical_specialty, Genetic counseling, Aneuploidy, Prenatal diagnosis, Biology, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Genetics (clinical), Fetus, Obstetrics, Mosaicism, Gene Expression Profiling, Chromosome Mapping, medicine.disease, medicine.anatomical_structure, Chorionic villi, Female, Abnormality, Down Syndrome, Trisomy