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المؤلفون: Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka
المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Sitaram, S, Banka, H C, Vassallo, G, Pavaine, J, Fairclough, A, Wright, R, Fairbanks, L, Bierau, J, Bowden, L, Schwahn, B, Horman, A & Banka, S 2023, ' Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy ', American Journal of Medical Genetics. Part A, vol. 191, no. 1, pp. 234-237 . https://doi.org/10.1002/ajmg.a.62999
American Journal of Medical Genetics Part A, 191(1), 234-237. Wileyمصطلحات موضوعية: reverse phenotyping, molecular autopsy, Genetics, LYASE DEFICIENCY, adenylosuccinate lyase, Genetics (clinical)
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المؤلفون: Elizabeth Alexander, Joan Getty, Chitra Sethuraman, Guy Makin, Elke M van Veen, Eamonn R. Maher, D. Gareth Evans, Vivian Tang, Emma R. Woodward, Adele Fairclough, Zerin Hyder, Mike Groom
المصدر: Journal of Medical Genetics. 58:581-585
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, TRIM28, Cytogenetics, Perilobar nephroblastomatosis, Cancer, Biology, medicine.disease, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, Genetics, Cancer research, medicine, Nephroblastomatosis, Gene, Genetics (clinical)
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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: Zerin, Hyder, Adele, Fairclough, Mike, Groom, Joan, Getty, Elizabeth, Alexander, Elke M, van Veen, Guy, Makin, Chitra, Sethuraman, Vivian, Tang, D Gareth, Evans, Eamonn R, Maher, Emma R, Woodward
المصدر: Journal of medical genetics. 58(9)
مصطلحات موضوعية: Comparative Genomic Hybridization, DNA Copy Number Variations, Biopsy, Infant, Immunohistochemistry, Magnetic Resonance Imaging, Kidney Neoplasms, Repressor Proteins, Phenotype, Cytogenetic Analysis, Humans, Female, Genetic Predisposition to Disease, Genetic Association Studies, Germ-Line Mutation, In Situ Hybridization, Fluorescence, Sequence Deletion
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المؤلفون: Zerin Hyder, Sofia Douzgou, Adele Fairclough
المصدر: Clinical dysmorphology. 28(3)
مصطلحات موضوعية: Adult, Male, Microcephaly, Adult male, Developmental Disabilities, Pathology and Forensic Medicine, Intellectual Disability, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Obesity, Gene, Genetics (clinical), Genetics, Comparative Genomic Hybridization, business.industry, Chromosome, Facies, General Medicine, medicine.disease, Phenotype, Musculoskeletal Abnormalities, Parathyroid carcinoma, Chromosomes, Human, Pair 1, Pediatrics, Perinatology and Child Health, Anatomy, Chromosome Deletion, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3042a1387836cfee35ad92ff8bdd0e3c
https://pubmed.ncbi.nlm.nih.gov/31045593
