المؤلفون: Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: SAMD9, FGR, NGS, adrenal insufficiency, endocrinopathies, myelodysplastic syndrome (MDS), Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.953707/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/292e3478993f4c9b917691aa86c27551

المؤلفون: Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E. Moore, Philip Stanier, Maria Rita Passos-Bueno

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e5bb70625e764a11be2c07ab251f41fb

المؤلفون: Marian Seda, Emma Peskett, Charalambos Demetriou, Dale Bryant, Gudrun E. Moore, Philip Stanier, Dagan Jenkins

المصدر: F1000Research, Vol 8 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://f1000research.com/articles/8-273/v1; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/2d1570a72ef94824a92718502fe28cf3

المؤلفون: Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann

المصدر: F1000Research, Vol 8 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://f1000research.com/articles/8-90/v1; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/743bdf2ea6ee423d8db9bf96dd9fd3e8

المؤلفون: Maria Derakhshan, Noah J Kessler, Miho Ishida, Charalambos Demetriou, Nicolas Brucato, Gudrun E Moore, Caroline H D Fall, Giriraj R Chandak, Francois-Xavier Ricaut, Andrew M Prentice, Garrett Hellenthal, Matt J Silver

المساهمون: Evolution et Diversité Biologique (EDB), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Medical Research Council, Human Genetics Division [Singapore], Genome Institute of Singapore (GIS), University College of London [London] (UCL)

المصدر: Nucleic Acids Research
Nucleic Acids Research, 2022, 50 (12), pp.6735-6752. ⟨10.1093/nar/gkac503⟩

مصطلحات موضوعية: Tissue-and ethnicity-independent, Illumina 450K array, Hypervariable DNA methylation, Genetics, Early embryo, Humans, Reproducibility of Results, Systemic inter-individual variation, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, DNA Methylation

وصف الملف: application/pdf; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae458740f23f467577d189ea55c9238
https://pubmed.ncbi.nlm.nih.gov/35713545

المؤلفون: Daniël A. Lionarons, Davide Zecchin, Jeffrey R. MacDonald, Wei-Li Di, Hui Chen, Miriam Molina, Stuart Horswell, Gemma Tell, Véronique Bataille, Dale Bryant, Julia Newton-Bishop, Philip Stanier, Gudrun E. Moore, Kiran Parmar, Josep Malvehy, Catherine A. Harwood, Satyamaanasa Polubothu, Cristina Carrera, Jérémie Nsengimana, Veronica A. Kinsler, Julian Downward, Nathan Wlodarchak, Alan Pittman, Susana Puig, Yongna Xing, Neil J. Sebire, Anna C. Thomas, Mark Harland, L. Al-Olabi, Mehdi Zarrei, Michael Howell, Sarah Brand, Paulina Stadnik, Stephen W. Scherer, Lilian Hunt, Eugene Healy, Dale Moulding, Paula Aguilera, J.A. Puig-Butillé, Deborah Morrogh, Vanessa Martins da Silva, Sam Loughlin, Regula Waelchli, Sara Martin Barberan, Greg Elgar, Lionel Larue

المساهمون: Oncology, CCA - Cancer biology and immunology, CCA - Cancer Treatment and Quality of Life

المصدر: Genetics in medicine, 23(9), 1636-1647. Lippincott Williams and Wilkins
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Model organisms, Skin Neoplasms, Gene Expression, Biology, Germline, Article, 030207 dermatology & venereal diseases, 03 medical and health sciences, Signalling & Oncogenes, 0302 clinical medicine, Congenital melanocytic nevus, medicine, Genetic predisposition, Nevus, Humans, Gene, Melanoma, Genetics (clinical), Computational & Systems Biology, Chemical Biology & High Throughput, Genome Integrity & Repair, Tumour Biology, Microphthalmia-associated transcription factor, medicine.disease, Phenotype, Immunohistochemistry, 030104 developmental biology, Cancer research, Genetics & Genomics, Developmental Biology

وصف الملف: text; spreadsheet; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf020b972091ef0da9c25d686d2a0a5
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html

المؤلفون: Charalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, Miho Ishida, Reena Aggarwal, Lara Al-Olabi, Lydia J Leon, Jaime L Stafford, Argyro Syngelaki, Donald Peebles, Kypros H Nicolaides, Lesley Regan, Philip Stanier, Gudrun E Moore

المصدر: PLoS ONE, Vol 9, Iss 1, p e85454 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3893199?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/08749f3843fc44aa87d216e6ca42c13d

المؤلفون: Emma Wakeling, Jenny Child, Deborah J G Mackay, Miho Ishida, Christopher D. Byrne, Justin H Davies, I. Karen Temple, Oluwakemi Lokulo-Sodipe, Hazel Inskip, Gudrun E. Moore, Angela Fenwick, Lisa Marie Ballard

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, uniparental disomy, Short stature, Epigenesis, Genetic, Impaired glucose tolerance, Genomic Imprinting, Young Adult, Insulin-Like Growth Factor II, parasitic diseases, Genetics, medicine, Humans, Genetics (clinical), Aged, Chromosome 7 (human), business.industry, Silver Russell syndrome, Silver–Russell syndrome, Genotype-Phenotype Correlations, Retrospective cohort study, DNA Methylation, Middle Aged, medicine.disease, Uniparental disomy, Growth hormone treatment, short stature, Silver-Russell Syndrome, Phenotype, Cohort, Quality of Life, Female, RNA, Long Noncoding, medicine.symptom, imprinting, business

وصف الملف: text; image

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fcf40152ba1c5a1d9381d94b71adf0
https://eprints.soton.ac.uk/437350/

المؤلفون: Miho Ishida, Philip Stanier, Daniyal J. Jafree, Emma Peskett, Claire Walsh, Jason Rihel, Cristina Alemán-Charlet, Kaitlyn M. Eckert, Sanchari Datta, Rimante Seselgyte, Thomas A. Hawkins, Marian Seda, Jeffrey G. McDonald, Hanaa Hariri, Lydia Teboul, Charalambos Demetriou, Gideon Pomeranz, Gudrun E. Moore, Letizia Vestito, Dale Bryant, W. Mike Henne, Maria Bitner-Glindzicz, Myriam Hemberger, Dagan Jenkins, Constance Maurer, Marcus Ghosh, James Cleak

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: 0301 basic medicine, Molecular biology, Placenta, lcsh:Medicine, Diseases, Pathogenesis, medicine.disease_cause, Animals, Genetically Modified, Mice, 0302 clinical medicine, Pregnancy, lcsh:Science, Zebrafish, Sorting Nexins, Phospholipids, 0303 health sciences, Mutation, Multidisciplinary, Molecular medicine, Biological techniques, Cell Differentiation, Phenotype, Cell biology, Trophoblasts, Neurology, Models, Animal, Spinocerebellar ataxia, Female, Embryonic Development, Biology, Article, 03 medical and health sciences, Developmental biology, medicine, Genetics, Animals, Humans, Spinocerebellar Ataxias, Fetal Viability, Gene, Loss function, 030304 developmental biology, lcsh:R, Lipid metabolism, biology.organism_classification, medicine.disease, Lipid Metabolism, Mice, Inbred C57BL, Sorting nexin, 030104 developmental biology, lcsh:Q, 030217 neurology & neurosurgery, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5088837813b63ac8b07f9923f25c772
http://hdl.handle.net/10044/1/90147

المؤلفون: Susan Bint, Emily Cottrell, Vivian Hwa, Avril Mason, Gudrun E. Moore, Miho Ishida, Neil Wright, Iman Al Basiri, Louise A. Metherell, Leo Dunkel, Stephen J Rose, Helen L Storr, Joo Wook Ahn, Artur Bossowski, Sumana Chatterjee, Asma Deeb, Claudia P. Cabrera, James Greening

المصدر: European Journal of Endocrinology

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Genome-wide association study, Biology, Growth hormone, Short stature, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Copy-number variation, Genetic Testing, Insulin-Like Growth Factor I, Child, Gene, Genetics, Human Growth Hormone, Wnt signaling pathway, Infant, General Medicine, medicine.disease, Idiopathic short stature, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Clinical Study, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e5c036083d3b0afa33f5f620e75070
https://pubmed.ncbi.nlm.nih.gov/33055295