نتائج البحث - "Sarah Waller"

المصدر: Thorbinson, C, Penn, A, Nicola, P, Hardcastle, C L, Waller, S, Ramsden, S, Coorens, T H H, Tang, V, Cheesman, E, Douzgou, S & Meyer, S 2022, ' Embryonal sarcoma of the liver in a girl with Cockayne Syndrome ', Clinical Genetics .

مصطلحات موضوعية: Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Liver Neoplasms, Genetics, Humans, Female, Sarcoma, Cockayne Syndrome, Genetics (clinical)

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4852b7f0b85023cd066743e96a43aa
https://doi.org/10.1111/cge.14094

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6

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

المؤلفون: Simon G. Williams, Fiona Stewart, Jill E. Urquhart, Jill Clayton-Smith, Susmito Biswas, Beverley Anderson, I. Christopher Lloyd, Jane Ashworth, Graeme C.M. Black, Sarah Waller, Rachel L. Gillespie, Simon Jones

المصدر: Ophthalmology. 123:217-220

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8fd1d28938f52d0bede16ac9847ca9
https://doi.org/10.1016/j.ophtha.2015.06.035

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7

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms

المؤلفون: H. Bonin, Sofia Douzgou, Jane Ashworth, Simon C Ramsden, Graeme C.M. Black, Sarah Waller, I C Lloyd, Jill Clayton-Smith, A. Redwood, A. Roberts

المصدر: European Journal of Medical Genetics. 63:103658

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa29094033c7470b01abee2afc4b68d
https://doi.org/10.1016/j.ejmg.2019.04.015

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8

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (

المؤلفون: Ahmed K, Shalaby, Peter, Emery-Billcliff, Diana, Baralle, Tabib, Dabir, Shahiba, Begum, Sarah, Waller, Lydia, Tabernero, Martin, Lowe, James, Self

المصدر: Molecular vision. 24

مصطلحات موضوعية: Hemizygote, Male, Protein Conformation, alpha-Helical, Protein Folding, Binding Sites, Gene Expression, Cataract, Phosphoric Monoester Hydrolases, Pedigree, Oculocerebrorenal Syndrome, Phenotype, Amino Acid Substitution, rab GTP-Binding Proteins, Humans, Point Mutation, Protein Conformation, beta-Strand, Protein Interaction Domains and Motifs, Child, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::568e49931a3c8f81adb2fb6dc6cb4ca9
https://pubmed.ncbi.nlm.nih.gov/30713423

9

Designing dementia-friendly hospital environments

المؤلفون: Abigail Masterson, Sarah Waller

المصدر: Future Hospital Journal. 2:63-68

مصطلحات موضوعية: Gerontology, Evidence-based practice, Hospital Infrastructure, Download, Dementia friendly, Design elements and principles, medicine.disease, Distress, Work (electrical), Nursing, medicine, Dementia, Environmental impact assessment, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9849bf13f02803880f3fe50fcaffb83
https://doi.org/10.7861/futurehosp.15.017

10

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

المؤلفون: David R. FitzPatrick, Graeme C.M. Black, Sarah Waller, Alison M. Meynert, Deirdre E. Donnelly, Jill E. Urquhart, I Chris Lloyd, Jill Clayton-Smith, Gisela Wilcox, Rachel L. Taylor, Jamie M Ellingford, Charu Deshpande, Mark T. Handley, Helen Mundy, Christopher Campbell

المصدر: Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative Ophthalmology & Visual Science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026
Investigative ophthalmology & visual science
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative ophthalmology & visual science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Time Factors, Adolescent, DNA Copy Number Variations, DNA Mutational Analysis, Very long chain fatty acid, Disease, Biology, Bioinformatics, Short stature, Cataract, Article, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, genomics, medicine, Humans, PEX11B, Copy-number variation, Child, Genetics, peroxisome biogenesis disorder, Membrane Proteins, DNA, Peroxisome, medicine.disease, Phenotype, Pedigree, Developmental disorder, 030104 developmental biology, congenital cataract, chemistry, Child, Preschool, Mutation, Female, next-generation sequencing, medicine.symptom, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9659220464b7f8498aea1c42ed3f7b5
https://hdl.handle.net/20.500.11820/f9b17085-9d01-4e54-9b95-58c2fc318024

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