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1دورية أكاديمية
المؤلفون: Mackay Deborah J.G., Eggermann Thomas, Buiting Karin, Garin Intza, Netchine Irène, Linglart Agnès, de Nanclares Guiomar Perez
المصدر: Biomolecular Concepts, Vol 6, Iss 1, Pp 47-57 (2015)
مصطلحات موضوعية: angelman syndrome, beckwith-wiedemann syndrome, imprinting disorder, multilocus methylation defect, prader-willis syndrome, pseudohypoparathyroidism type 1b, silver-russell syndrome, temple syndrome, transient neonatal diabetes, wang-kagami-ogata syndrome, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2
المؤلفون: Thomas Eggermann, Agnès Linglart, Deborah J G Mackay, Irène Netchine, Karin Buiting, Intza Garin, Guiomar Perez de Nanclares
المصدر: Biomolecular Concepts, Vol 6, Iss 1, Pp 47-57 (2015)
مصطلحات موضوعية: QH301-705.5, Medizin, Epigenetics of autism, Biology, General Biochemistry, Genetics and Molecular Biology, Genomic Imprinting, Cellular and Molecular Neuroscience, Angelman syndrome, medicine, Animals, Chromosomes, Human, Humans, angelman syndrome, Biology (General), Allele, Imprinting (psychology), pseudohypoparathyroidism type 1b, Gene, beckwith-wiedemann syndrome, imprinting disorder, Genetics, wang-kagami-ogata syndrome, Genetic Diseases, Inborn, silver-russell syndrome, General Medicine, Methylation, DNA Methylation, medicine.disease, transient neonatal diabetes, Genetic Loci, DNA methylation, multilocus methylation defect, prader-willis syndrome, Genomic imprinting, temple syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9025a4ed65154d84dc65da47302f6bd5
https://doi.org/10.1515/bmc-2014-0037 -
3
المؤلفون: Begemann, Matthias
المساهمون: Eggermann, Thomas
المصدر: Aachen : Publikationsserver der RWTH Aachen University IV, 133 Bl. : Ill., graph. Darst. (2013). = Aachen, Techn. Hochsch., Diss., 2013
مصطلحات موضوعية: MS-SNuPE, imprinting disorder, Erkrankung, Genetisches Imprinting, methylation defects, Imprinting, MLMD, uniparentale Disomie, Methylierung, uniparental disomie, Biowissenschaften, Biologie, ddc:570, Methylierungsdefekte, Krankheit, multilocus methylation defect, Silver-Russell-Syndrom, Genomische Prägung
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______791::8e7fd41ba8adcfb37490eafee56d9ad9
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4دورية أكاديمية
المؤلفون: Paganini L; a Division of Pathology; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation; Università degli Studi di Milano ; Milano , Italy., Carlessi N, Fontana L, Silipigni R, Motta S, Fiori S, Guerneri S, Lalatta F, Cereda A, Sirchia S, Miozzo M, Tabano S
المصدر: Epigenetics [Epigenetics] 2015; Vol. 10 (7), pp. 643-9.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265293 Publication Model: Print Cited Medium: Internet ISSN: 1559-2308 (Electronic) Linking ISSN: 15592294 NLM ISO Abbreviation: Epigenetics Subsets: MEDLINE
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5دورية أكاديمية
المؤلفون: Eggermann T; Institute of Human Genetics, RWTH Technical University, Aachen, Germany. Electronic address: teggermann@ukaachen.de., Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M
المصدر: The Journal of pediatrics [J Pediatr] 2013 Oct; Vol. 163 (4), pp. 1202-7. Date of Electronic Publication: 2013 Jul 01.
نوع المنشور: Clinical Conference; Journal Article
بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE
مواضيع طبية MeSH: Genomic Imprinting*, Abnormalities, Multiple/*genetics, Adolescent ; Child ; Child, Preschool ; Chromosome Mapping ; DNA Methylation ; Epigenesis, Genetic ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; Infant ; Male ; Phenotype ; Syndrome ; Uniparental Disomy/genetics