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1دورية أكاديمية
المؤلفون: Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman
المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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المؤلفون: Ranjay, Jayadev, Mychel R P T, Morais, Jamie M, Ellingford, Sandhya, Srinivasan, Richard W, Naylor, Craig, Lawless, Anna S, Li, Jack F, Ingham, Eric, Hastie, Qiuyi, Chi, Maryline, Fresquet, Nikki-Maria, Koudis, Huw B, Thomas, Raymond T, O'Keefe, Emily, Williams, Antony, Adamson, Helen M, Stuart, Siddharth, Banka, Damian, Smedley, David R, Sherwood, Rachel, Lennon
المصدر: Genomics England Research Consortium 2022, ' A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations ', Science Advances, vol. 8, no. 20, eabn2265 . https://doi.org/10.1126/sciadv.abn2265
مصطلحات موضوعية: Extracellular Matrix Proteins, Multidisciplinary, Basement Membrane/metabolism, Extracellular Matrix/genetics, Animals, Humans, Caenorhabditis elegans, Caenorhabditis elegans/genetics, Basement Membrane, Zebrafish, Extracellular Matrix Proteins/metabolism, Zebrafish/genetics, Extracellular Matrix
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d51eaf7f96020b423d4c6daee051185
https://doi.org/10.1126/sciadv.abn2265 -
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المؤلفون: Sangeet Sidhu, J. Robert Harkness, John A. Sayer, Katherine A. Wood, Helen M. Stuart, Keng Wee Teik, Heather J. Cordell, Huw B. Thomas, Adrian S. Woolf, Glenda M. Beaman, William G. Newman
المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Kidney International Reportsمصطلحات موضوعية: Nephrology, Early B-Cell Factor, business.industry, Urofacial syndrome, MEDLINE, Medicine, Disease, Nephrology Rounds, business, medicine.disease, Bioinformatics, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923
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المؤلفون: Glenda M, Beaman, Filipa M, Lopes, Aybike, Hofmann, Wolfgang, Roesch, Martin, Promm, Emilia K, Bijlsma, Chirag, Patel, Aykut, Akinci, Berk, Burgu, Jeroen, Knijnenburg, Gladys, Ho, Christina, Aufschlaeger, Sylvia, Dathe, Marie Antoinette, Voelckel, Monika, Cohen, Wyatt W, Yue, Helen M, Stuart, Edward A, Mckenzie, Mark, Elvin, Neil A, Roberts, Adrian S, Woolf, William G, Newman
المصدر: Frontiers in genetics. 13
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::59ae0b21c94e05f2536463f5a7b0e8bf
https://pubmed.ncbi.nlm.nih.gov/35812751 -
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المؤلفون: Nikki-Maria Koudis, Damian Smedley, Mychel Rpt Morais, Jamie M Ellingford, Antony Adamson, David R. Sherwood, Maryline Fresquet, Anna S. Li, Sandhya Srinivasan, Eric Hastie, Ranjay Jayadev, Richard W. Naylor, Rachel Lennon, Emily Williams, Raymond T. O'Keefe, Jack F. Ingham, Helen M. Stuart, Craig Lawless, Huw B. Thomas, Qiuyi Chi, Siddharth Banka
مصطلحات موضوعية: Basement membrane, Network complexity, medicine.anatomical_structure, biology, ADAMTS, medicine, Computational biology, biology.organism_classification, Gene, Genome, Phenotype, Zebrafish, Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5abdb5d7cef4df1add0326719cc4136c
https://doi.org/10.1101/2021.10.25.465762 -
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المؤلفون: George J Burghel, Bronwyn Kerr, Sanjeev S. Bhaskar, John Ealing, Helen Kingston, Claire Kyle, Iain A. Bruce, Helen M. Stuart, Graeme C.M. Black, Algy Taylor, Elizabeth A. Jones, Siddharth Banka, Abigail Rousseau, Suresh Somarathi, D A Gokhale, Emma Burkitt-Wright, Jamie M Ellingford, Laura Dutton, Kate Chandler, Sofia Douzgou, Leslie P Molina-Ramírez, Ronnie Wright, Adele Fairclough, William G. Newman, Tracy A Briggs, Harriet Jackson, Christopher J. Campbell, Jill Clayton-Smith
المصدر: Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303
مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Genomics, Workload, medical, 03 medical and health sciences, Rare Diseases, Gene panel, Intellectual disability, Exome Sequencing, Genetics, medicine, genomics, Humans, Exome, genetics, Genetics (clinical), Exome sequencing, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Gene selection, business, Rare disease, early diagnosis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067003e93ee1155e5c058f3e4351b47
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdf -
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المؤلفون: Adrian S. Woolf, William G. Newman, Ali Aishah, Katherine A. Wood, Raymond T. O'Keefe, Jill E. Urquhart, Glenda M. Beaman, Sanjeev S. Bhaskar, Gabriella Galatà, Helen M. Stuart, Keng Wee Teik, James O'Sullivan, Huw B. Thomas
المصدر: Clinical Genetics
Beaman, G M, Galatà, G, Teik, K W, Urquhart, J E, Aishah, A, O'Sullivan, J, Bhaskar, S S, Wood, K A, Thomas, H B, O'Keefe, R T, Woolf, A S, Stuart, H M & Newman, W G 2019, ' A homozygous missense variant in CHRM3 associated with familial urinary bladder disease ', Clinical Genetics, vol. 96, no. 6, pp. 515-520 . https://doi.org/10.1111/cge.13631مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Urinary system, Mutation, Missense, 030105 genetics & heredity, Gastroenterology, Frameshift mutation, 03 medical and health sciences, Internal medicine, Prune belly, Muscarinic acetylcholine receptor, distended bladder, Genetics, medicine, Mydriasis, Missense mutation, Humans, Family, Genetics (clinical), Receptor, Muscarinic M3, Base Sequence, business.industry, Homozygote, Malaysia, Urinary Bladder Diseases, Original Articles, CHRM3, urinary bladder disease, medicine.disease, 030104 developmental biology, prune belly, Bladder Disorder, Original Article, Female, medicine.symptom, business, Urinary bladder disease
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المؤلفون: Glenda M. Beaman, Jill E. Urquhart, Adrian S. Woolf, William G. Newman, Helen M. Stuart, David Keene, Imran Mushtaq, Raimondo M. Cervellione
المصدر: Newman, W, Woolf, A S, Beaman, G, Cervellione, R, Stuart, H, Keene, D & Mushtaq, I 2019, ' 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.61032
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Microarray, Chromosomes, Human, Pair 22, Urinary system, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, DiGeorge syndrome, Chromosome Duplication, Gene duplication, DiGeorge Syndrome, Odds Ratio, Genetics, Humans, Medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Copy-number variation, Genetic Association Studies, Genetics (clinical), Adaptor Proteins, Signal Transducing, Gastrointestinal tract, business.industry, Bladder Exstrophy, medicine.disease, United Kingdom, Pediatric urology, Phenotype, 030104 developmental biology, Female, business, Congenital disorder
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document