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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/f53fdbd76f954105b41d5e7e7e993256

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.896125/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1

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

Relation: http://www.sciencedirect.com/science/article/pii/S2468024920313644; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/61fa727ff6fc45e5a26768306ca2daf2

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

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 Reports

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb53ea7eda8248cbf33f6b1fa8c7178e
http://www.sciencedirect.com/science/article/pii/S2468024920313644

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

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

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

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.13631

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816e687d55f722ed4cd6649518ce83a2
http://europepmc.org/articles/PMC6899476

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e494f47ff0703da8b43ab1c0bbe5429
https://doi.org/10.1002/ajmg.a.61032