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1دورية أكاديمية
المؤلفون: Louise E. Docherty, Faisal I. Rezwan, Rebecca L. Poole, Claire L. S. Turner, Emma Kivuva, Eamonn R. Maher, Sarah F. Smithson, Julian P. Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaros
المصدر: Nature, Nature Communications. 6(1):1-7
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المؤلفون: Hannah Jagoe, Louise E Docherty, Hannah A Lake, I. Karen Temple, Deborah J G Mackay, Hasan Arshad, Rebecca L. Poole, Faisal I. Rezwan, Gabrielle A. Lockett, John W. Holloway, David I. Wilson
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Biology, Infant, Newborn, Diseases, Genomic Imprinting, Diabetes Mellitus, Genetics, medicine, Humans, Genome-wide, Epigenetics, Alleles, Genetic Association Studies, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Epigenomics, Genome, Human, Infant, Newborn, Reproducibility of Results, Imprinting, DNA Methylation, Ribonucleoproteins, Small Nuclear, medicine.disease, 3. Good health, Differentially methylated regions, Gene Expression Regulation, Genetic Loci, DNA methylation, Illumina Methylation Assay, CpG Islands, Human genome, Genomic imprinting
وصف الملف: text
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المؤلفون: Anna Lehmann, Emma Wakeling, I. Karen Temple, Emma L. Baple, Claire L. S. Turner, Lucy Harrison, Louise E. Docherty, Deborah J G Mackay, Almuth Caliebe, Abeer Al Sayegh, Rebecca L. Poole
المصدر: American Journal of Medical Genetics Part A. 161:2174-2182
مصطلحات موضوعية: Epigenomics, Genetics, Genetic heterogeneity, Genetic Diseases, Inborn, Epigenetics of autism, DNA Methylation, Biology, medicine.disease, Cohort Studies, Genetic Heterogeneity, Genomic Imprinting, Phenotype, Genetic Loci, Angelman syndrome, DNA methylation, medicine, Humans, Genetic Testing, Copy-number variation, Epigenetics, Imprinting (psychology), Genomic imprinting, Genetics (clinical)
وصف الملف: text
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المؤلفون: Yves Kockaerts, Louise E. Docherty, Deborah J G Mackay, I. Karen Temple, Andreas P. Haemers, Lise G. Larsen, Johanne M D Hahnemann, Vijith Puthi, Lutgarde Dooms, C. T. Bich Ngoc, Anna Lehmann, Carlo L. Acerini, Dũng Chí Vũ, Karen Grønskov, Pinar Dayanikli, Ahmed F. Massoud, Susanne E Boonen, Zeynep Tümer, Frida Sundberg, Phuong Bich Nguyen, Olga Kordonouri
المصدر: Diabetes Care. 36:505-512
مصطلحات موضوعية: Advanced and Specialized Nursing, Proband, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Locus (genetics), medicine.disease, Compound heterozygosity, Bioinformatics, Endocrinology, Transient neonatal diabetes mellitus, Internal medicine, Tissue mosaicism, Genotype, Internal Medicine, Macroglossia, Medicine, medicine.symptom, business, Genomic imprinting
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المؤلفون: R. S. James, Deborah J G Mackay, Kemi Lokulo-Sodipe, N N Zalkapli, I. Karen Temple, Louise E. Docherty, Justin H Davies
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Register (music), business.industry, Neonatal diabetes, Medicine, Transient (computer programming), business, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c28fe80d0ca928b4544f169195a4351e
https://doi.org/10.1530/endoabs.39.oc7.6 -
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المؤلفون: Emma L. Baple, Deborah J G Mackay, Louise E. Docherty, Lukas Soellner, Claire L. S. Turner, Emma Kivuva, Karin Buiting, Thomas Eggermann, Matthias Begemann, Rebecca L. Poole, Sarah F. Smithson, I. Karen Temple, Michal Patalan, Eamonn R. Maher, Julian P Hamilton-Shield, Bernhard Horsthemke, Jasmin Beygo, Jarosław Peregud-Pogorzelski, Sahar Mansour, Faisal I. Rezwan, Maria Gizewska
المساهمون: Mackay, Deborah JG [0000-0003-3088-4401], Apollo - University of Cambridge Repository
المصدر: Nature Communications
Nature Communications 6, 8086 (2015). doi:10.1038/ncomms9086مصطلحات موضوعية: Male, Beckwith-Wiedemann Syndrome, medicine.medical_treatment, Medizin, General Physics and Astronomy, Monozygotic twin, Autoantigens, Polymerase Chain Reaction, Infant, Newborn, Diseases, Epigenesis, Genetic, Diabetes mellitus genetics, Pregnancy, Imprinting (psychology), Genetics, Multidisciplinary, Nuclear Proteins, Hydatidiform Mole, 3. Good health, Uterine Neoplasms, DNA methylation, Female, Biologie, Infertility, Female, Adult, Adolescent, DNA Copy Number Variations, Mothers, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, Genomic Imprinting, Young Adult, Diabetes Mellitus, medicine, Humans, Computer Simulation, Obesity, Epigenetics, Autistic Disorder, Assisted reproductive technology, Silver–Russell syndrome, Sequence Analysis, DNA, Twins, Monozygotic, General Chemistry, DNA Methylation, medicine.disease, Abortion, Spontaneous, Silver-Russell Syndrome, Mutation, Genomic imprinting
وصف الملف: text; spreadsheet; application/pdf
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المؤلفون: Louise E Docherty, Deborah J G Mackay, C. J. Mattocks, I K Temple, Anna Lehmann, Rebecca L. Poole
المصدر: Diabetologia. 53:2347-2351
مصطلحات موضوعية: Neonatal diabetes, Endocrinology, Diabetes and Metabolism, Infant, Newborn, Infant, Potential candidate, Human physiology, Biology, Bioinformatics, Polymerase Chain Reaction, Genomic Imprinting, Diabetes mellitus genetics, Gene duplication, Diabetes Mellitus, Internal Medicine, Humans, Chromosomes, Human, Pair 6, Imprinting (psychology)
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المؤلفون: Sahar Mansour, I. Karen Temple, Bruce Castle, Emma Kivuva, Margaret Lever, Deborah M. Mackay, Claire L. S. Turner, Jonathan L A Callaway, Rebecca L. Poole, Hilary Bullman, Justin H Davies, Sarju G. Mehta, Verghese Mathew, Louise E Docherty, Jackie Madden, Peter D. Turnpenny, Emma Wakeling
المصدر: European Journal of Human Genetics. 18:648-655
مصطلحات موضوعية: RNA, Untranslated, Developmental Disabilities, Population, Russell-Silver Syndrome, Biology, Receptor, IGF Type 2, Article, Epigenesis, Genetic, Cohort Studies, Genomic Imprinting, Pregnancy, Genetics, medicine, Humans, Epigenetics, Child, education, Growth Disorders, Genetics (clinical), education.field_of_study, Fetal Growth Retardation, KCNQ1OT1, Silver–Russell syndrome, Infant, Newborn, Sequence Analysis, DNA, Methylation, DNA Methylation, medicine.disease, Silver-Russell Syndrome, Genetic Loci, Child, Preschool, DNA methylation, Female, RNA, Long Noncoding, Genomic imprinting
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المؤلفون: Louise E Docherty, John W. Holloway, Faisal I. Rezwan, I. Karen Temple, Deborah J G Mackay, S. Hasan Arshad, Gabrielle A. Lockett, Rebecca L. Poole
المصدر: Clinical Epigenetics
مصطلحات موضوعية: Genetics, Crawford-Howell t-test, Methodology, Illumina HumanMethylation450 array, Single sample, Methylation, Biology, Genome, Human genetics, 3. Good health, Single case-control analysis, Methylation analysis, DNA methylation, Human genome, Imprinting (psychology), Molecular Biology, Genetics (clinical), Developmental Biology
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المؤلفون: Andrew T. Hattersley, Sarah Ennis, Sarah E. Flanagan, S Kabwama, Louise E Docherty, E. Hawke, Julian P.H. Shield, I K Temple, Deborah J G Mackay, Sian Ellard, L Harrison, A. Lehmann
المصدر: Diabetologia. 56(4)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Gestational Age, Infant, Newborn, Diseases, Genotype phenotype, Correlation, Cohort Studies, Genomic Imprinting, Diabetes mellitus, Internal Medicine, Diabetes Mellitus, Medicine, Humans, In patient, Abnormalities, Multiple, Age of Onset, Genetic Association Studies, business.industry, Remission Induction, Infant, Newborn, Gestational age, DNA Methylation, Uniparental Disomy, medicine.disease, Phenotype, Transient neonatal diabetes mellitus, Cohort, Immunology, Etiology, Chromosomes, Human, Pair 6, Female, business
وصف الملف: text
Find this article in full text from Springer Verlag.