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1Academic Journal
المؤلفون: Peterson, J., Muddiman, L., Groves, F., Booth, N., Newman, W. G., McDermott, J. H., Mahaveer, A.
المصدر: Frontiers in Pediatrics; 2024, p1-6, 6p
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2Academic Journal
المؤلفون: Albalwy, F., McDermott, J. H., Newman, W. G., Brass, A., Davies, A.
المصدر: The Pharmacogenomics Journal ; volume 22, issue 5-6, page 264-275 ; ISSN 1470-269X 1473-1150
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3Academic Journal
المؤلفون: Szot, J. O., Cuny, H., Martin, E. M., Sheng, D. Z., Iyer, K., Portelli, S., Nguyen, V., Gereis, J. M., Alankarage, D., Chitayat, D., Chong, K., Wentzensen, I. M., Vincent, Catherine, Lermine, A., Burkitt-Wright, E., Ji, W., Jeffries, L., Pais, L. S., Tan, T. Y., Pitt, J., Wise, C. A., Wright, H., Andrews, I. D., Pruniski, B., Grebe, T. A., Corsten-Janssen, N., Bouman, K., Poulton, C., Prakash, S., Keren, B., Brown, N. J., Hunter, M. F., Heath, O., Lakhani, S. A., Mcdermott, J. H., Ascher, D. B., Chapman, G., Bozon, K., Dunwoodie, S. L.
المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Relation: J Clin Invest; http://hdl.handle.net/20.500.12210/115557
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4Academic Journal
المؤلفون: McDermott, J H, Stoddard, D, Ellingford, J M, Gokhale, D, Reynard, C, Black, G, Body, R, Newman, W G
المساهمون: Manchester NIHR BRC, Health Education England Genomics Education Programme
المصدر: QJM: An International Journal of Medicine ; volume 113, issue 12, page 851-853 ; ISSN 1460-2725 1460-2393
مصطلحات موضوعية: General Medicine
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5Academic Journal
المؤلفون: Siddique, N, Durcan, R, Smyth, S, Tun, T Kyaw, Sreenan, S, McDermott, J H
المصدر: Endocrinology, Diabetes & Metabolism Case Reports ; volume 2020 ; ISSN 2052-0573
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6Academic Journal
المؤلفون: McPherson, M. J., Dolan, S. E., Durango, A., Ossandón, Tomás, Valdés Bize, Joaquín, Undurraga Fourcade, Eduardo Andrés, Jacoby, N., Godoy, R. A., McDermott, J. H.
مصطلحات موضوعية: 04 Quality Education, 04 Educación y calidad
وصف الملف: 14 páginas
Relation: https://doi.org/10.1038/s41467-020-16448-6; https://repositorio.uc.cl/handle/11534/61132; WOS:000544009800001
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7Academic Journal
المؤلفون: McDermott, J H, Nichols, D R, Lovell, M E
مصطلحات موضوعية: Original article
وصف الملف: text/html
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8Academic Journal
المؤلفون: Egan, A. M., Mahmood, W. A. W., Fenton, R., Redziniak, N., Kyaw Tun, T., Sreenan, S., McDermott, J. H.
المصدر: QJM ; volume 106, issue 7, page 635-638 ; ISSN 1460-2725 1460-2393
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9Academic Journal
المؤلفون: Draman, M S, Thabit, H, Kiernan, T J, O'Neill, J, Sreenan, S, McDermott, J H
المصدر: Endocrinology, Diabetes & Metabolism Case Reports ; volume 2013 ; ISSN 2052-0573 2052-0573
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10Academic Journal
المؤلفون: Micheyl, C., McDermott, J. H., Oxenham, A. J.
المصدر: Perception & Psychophysics ; volume 71, issue 1, page 5-7 ; ISSN 0031-5117 1532-5962
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11Academic Journal
المؤلفون: Jacoby, N., Undurraga Fourcade, Eduardo Andrés, McPherson, M. J., Valdés Bize, Joaquín, Ossandón, Tomás, McDermott, J. H.
مصطلحات موضوعية: Psicología, Percepción musical, Cognición, Escalas psicológicas, Psicología social
Time: 150
وصف الملف: application/pdf
Relation: https://doi.org/10.1016/j.cub.2019.08.020; https://repositorio.uc.cl/handle/11534/49660
الاتاحة: https://repositorio.uc.cl/handle/11534/49660
https://doi.org/10.1016/j.cub.2019.08.020 -
12
المؤلفون: Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., Anita Rauch
المصدر: Deciphering Developmental Disorders (DDD) Study 2019, ' Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-018-0331-z
Web of Science
Eur J Hum Genetمصطلحات موضوعية: Male, Models, Molecular, Candidate gene, Cytoplasm, Biology, Article, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Intron, Protein primary structure, Facies, Infant, medicine.disease, Phenotype, Exon skipping, Child, Preschool, CYFIP2, Mutation, Female
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0326f688aa9da100d1da43c2778301
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures(25ed1309-95f9-4ade-81dd-3ae801258bcc).html -
13Academic Journal
المؤلفون: McDermott, J H, Hickson, N, Banerjee, I, Murray, P G, Ram, D, Metcalfe, K, Clayton-Smith, J, Douzgou, S
المصدر: McDermott , J H , Hickson , N , Banerjee , I , Murray , P G , Ram , D , Metcalfe , K , Clayton-Smith , J & Douzgou , S 2018 , ' Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth ' , Clinical Genetics , vol. 93 , no. 3 , pp. 687-692 . https://doi.org/10.1111/cge.13145 , https://doi.org/10.1111/cge.13145
مصطلحات موضوعية: Adolescent, Alleles, Child, Preschool, Class I Phosphatidylinositol 3-Kinases/genetics, Cyclin D2/genetics, Female, Genetic Association Studies/methods, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Hypoglycemia/diagnosis, Infant, Male, Phenotype, Phosphatidylinositol 3-Kinases/genetics, Proto-Oncogene Proteins c-akt/genetics, Signal Transduction, Young Adult
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14Academic Journal
المؤلفون: Rakovac Tisdall, A., King, T. F. J., Mahmood, W. A. W., Keat, C. S., Ali, R., Abdin, R., Koo, C. M., Alali, M., Sreenan, S., McDermott, J. H.
المصدر: Diabetic Medicine ; volume 35, issue 5, page 667-668 ; ISSN 0742-3071 1464-5491
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15Academic Journal
المؤلفون: Neel, Joe K., McDermott, J. H., Monday,, C. A.
المصدر: Journal (Water Pollution Control Federation), 1961 Jun 01. 33(6), 603-641.
URL الوصول: https://www.jstor.org/stable/25034426
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16Academic Journal
المؤلفون: Mcdermott, J. H., Hickson, N., Banerjee, I., Murray, P. G., Ram, D., Metcalfe, K., Clayton‐smith, J., Douzgou, S.
المصدر: Clinical Genetics; Mar2018, Vol. 93 Issue 3, p687-692, 7p, 1 Diagram, 2 Charts
مصطلحات موضوعية: HYPOGLYCEMIA, PROTEIN kinase regulation, PHOSPHATIDYLINOSITOL 3-kinases, HYPERINSULINISM, CELL growth, HETEROGENEITY, PATIENTS
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17Academic Journal
المؤلفون: Alsaraj, F., McDermott, J. H., Cawood, T., McAteer, S., Ali, M., Tormey, W., Cockburn, B. N., Sreenan, S.
المصدر: Faculty Publications
مصطلحات موضوعية: Diabetes, Hypertension, Hypertriglyceridemia, Metabolic syndrome, Electrical and Computer Engineering
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18Academic Journal
المؤلفون: McDermott, J H, Thabit, H, Hickey, N, Thompson, C, Gaffney, E, Young, V, Sreenan, S
المساهمون: Department of Endocrinology, Royal College of Surgeons, Connolly Hospital Blanchardstown, Dublin 15, Ireland. John.McDermott1@mailc.hse.ie
مصطلحات موضوعية: ACTH Syndrome, Ectopic, Adult, Bronchial Neoplasms, Carcinoid Tumor, Diagnosis, Differential, Humans, Male, Pituitary ACTH Hypersecretion, Tomography, X-Ray Computed
Relation: http://www.springerlink.com/content/g75027v17730m72p/; ACTH-secreting bronchial carcinoid: a diagnostic and therapeutic challenge. 2008, 177 (3):269-72 Ir J Med Sci; http://hdl.handle.net/10147/135374; Irish journal of medical science
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19Academic Journal
المؤلفون: Liew, A., McDermott, J. H., Barry, F., O’Brien, T.
المصدر: Diabetes, Obesity and Metabolism ; volume 10, issue 5, page 353-366 ; ISSN 1462-8902 1463-1326
الاتاحة: http://dx.doi.org/10.1111/j.1463-1326.2007.00754.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1463-1326.2007.00754.x
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1463-1326.2007.00754.x/fullpdf -
20Academic Journal
المؤلفون: O’Sullivan, E. P., McDermott, J. H., Walsh, C. Howel
المصدر: Irish Journal of Medical Science ; volume 176, issue 1, page 45-47 ; ISSN 0021-1265 1863-4362
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