المؤلفون: Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan

المصدر: Journal of Medical Genetics. 59:1082-1086

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8b4e878fe81aad79b710f1e83cc0ccd0
https://doi.org/10.1136/jmedgenet-2021-108314

المؤلفون: Kieran Walker, Anoop Mistry, Christopher M. Watson, Fatima Nadat, Eleanor O’Callaghan, Matthew Care, Laura A. Crinnion, Gururaj Arumugakani, David T. Bonthron, Clive Carter, Gina M. Doody, Sinisa Savic

المصدر: Journal of Clinical Immunology.

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::06dd910ddcde948864b1d47a96eaf504
https://doi.org/10.1007/s10875-023-01511-w

المؤلفون: Lesley Walker, Christopher M. Watson, Sarah Hewitt, Laura A. Crinnion, David T. Bonthron, Kelly E. Cohen

المصدر: Journal of Obstetrics and Gynaecology, Vol 39, Iss 3, Pp 328-334 (2019)

مصطلحات موضوعية: next-generation sequencing, copy number variation, foetal structural anomaly, Gynecology and obstetrics, RG1-991

Relation: http://dx.doi.org/10.1080/01443615.2018.1522529; https://doaj.org/toc/0144-3615; https://doaj.org/toc/1364-6893; https://doaj.org/article/3035ffaac5df40708f98f0da3393ad30

الاتاحة: https://doi.org/10.1080/01443615.2018.1522529
https://doaj.org/article/3035ffaac5df40708f98f0da3393ad30

المؤلفون: David T. Bonthron, Rachel Robinson, Rowena E. Mitchell, Christopher M. Watson, Sérgio D.J. Pena, George A. Tanteles, Laura A. Crinnion, Helen Lindsay, Ian M. Carr, Nick Camm, Domhnall J. O' Halloran, Caroline Joyce

المصدر: Laboratory Investigation. 101:442-449

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Computer science, In silico, Cell Biology, Computational biology, Amplicon, DNA sequencing, Pathology and Forensic Medicine, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Benchmark (computing), symbols, Pairwise comparison, Nanopore sequencing, Molecular Biology, Selection (genetic algorithm)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31b52ae07f4f509b9a9d22f3c49e2772
https://doi.org/10.1038/s41374-020-00489-y

المؤلفون: Claire E L Smith, Alexia Alexandraki, Sarah F Cordery, Rekha Parmar, David T Bonthron, Elizabeth M A Valleley

المصدر: PLoS ONE, Vol 12, Iss 9, p e0185678 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5619815?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4c5efe9de045428f9b2d5783e8b068b0

المؤلفون: Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan

المصدر: PLoS ONE, Vol 12, Iss 4, p e0174264 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/018e0d0b0c5f4a439d4efb23ef2dfb63

المؤلفون: Kieran Walker, Anoop Mistry, Christopher M Watson, Fatima Nadat, Laura A Crinnion, Gururaj Arumugakani, David T Bonthron, Clive Carter, Gina M Doody, Sinisa Savic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::200c47d012f26e0e9cca3ef1a6ed8394
https://doi.org/10.21203/rs.3.rs-1498757/v1

المؤلفون: Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan

المصدر: PLoS ONE, Vol 11, Iss 6, p e0157075 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4896502?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/824d612fa70a4520b39526d2fa623574

المؤلفون: Christopher M. Watson, Deborah L. Holliday, Laura A. Crinnion, David T. Bonthron

المصدر: Prenatal diagnosis. 42(2)

مصطلحات موضوعية: Genetic Markers, Male, Ubiquitin-Protein Ligases, Retinoblastoma, Obstetrics and Gynecology, Infant, Sequence Analysis, DNA, Nanopore Sequencing, Retinoblastoma Binding Proteins, Pregnancy, Gene Duplication, Humans, Female, Genetic Testing, Genetics (clinical), Gene Deletion, Preimplantation Diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e465848302086cc01111ba4cb28b5a
https://pubmed.ncbi.nlm.nih.gov/35014072

المؤلفون: Christopher M. Watson, Ian M. Carr, Sarah Hewitt, David T. Bonthron, Laura A. Crinnion, Julian Adlard, Rachel Robinson, Jennifer Bates, Eamonn Sheridan

المصدر: Laboratory investigation; a journal of technical methods and pathology

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Autism Spectrum Disorder, Computational biology, Biology, Article, Pathology and Forensic Medicine, Dystrophin, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, CRISPR-Associated Protein 9, Gene Duplication, Gene duplication, Humans, Molecular Biology, Gene, Sanger sequencing, Comparative Genomic Hybridization, duplication detection, Cas9, Breakpoint, Cell Biology, Cas9 enrichment, 3. Good health, Cytoskeletal Proteins, Nanopore Sequencing, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, symbols, Female, Nanopore sequencing, Third generation sequencing, Molecular Chaperones, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55debd2b0371705a2e971b97a8e89c6d
https://doi.org/10.1038/s41374-019-0283-0

المؤلفون: Philip Dean, Jennifer Bates, Carol A. Gardiner, Nick Camm, David T. Bonthron, Ian M. Carr, Christopher M. Watson

المصدر: Human Mutation. 41:525-531

مصطلحات موضوعية: Male, Pseudogene, Locus (genetics), Computational biology, Biology, Genetic analysis, law.invention, 03 medical and health sciences, Exon, law, Genetics, Humans, Genetic Predisposition to Disease, Gene conversion, Allele, Genetic Association Studies, Genetics (clinical), Polymerase chain reaction, Encephalocele, 030304 developmental biology, Polycystic Kidney Diseases, 0303 health sciences, Base Sequence, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Membrane Proteins, Exons, Sequence Analysis, DNA, Nanopore sequencing, Retinitis Pigmentosa, Ciliary Motility Disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92faca4d58fe3d4a615fe5f31556c47
https://doi.org/10.1002/humu.23940

المؤلفون: Sinisa Savic, Laura A. Crinnion, David T. Bonthron, Claire Stockdale, Ian M. Carr, Christopher M. Watson, Ian R. Berry, Andrew J. Cant

المصدر: Journal of Clinical Immunology. 39:270-273

مصطلحات موضوعية: medicine.medical_specialty, Medical microbiology, business.industry, Immunology, medicine, Immunology and Allergy, Late onset, Bioinformatics, business, Genetic diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c89f028d5f9868bbd08682a2a7967cdd
https://doi.org/10.1007/s10875-019-00625-4

المؤلفون: Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill

المصدر: PLoS Genetics, Vol 10, Iss 9, p e1004577 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4168999?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/221a47d3cc01479e8e83de40453586ea

المؤلفون: Colin A. Johnson, Valentina Stanley, Chen Li, Alexander Neumann, Mohamed S. Abdel-Hamid, Eamonn Sheridan, Arnout P. Kalverda, Elizabeth M. A. Valleley, Ghayda Mirzaa, Patrick M. Gaffney, Heidi L. Rehm, Paula Anzenberg, Danny Antaki, Iain W. Manfield, Alice Webb, Brian H.Y. Chung, Sherif F. Abdel‐Ghafar, Grace E. VanNoy, Nhi Lang, Guoliang Chai, Lynn Pais, David A. Parry, David T. Bonthron, Clare V. Logan, Mandy H.Y. Tsang, Sangmoon Lee, Joseph G. Gleeson, Alysia Kern Lovgren, Maha S. Zaki, Klaas J. Wierenga, Trevor Marshall, Xiaoxu Yang, Martin W. Breuss, Patricia A. Jennings, Mahmoud Y. Issa, Jullianne Diaz, Eyby Leon

المصدر: Neuron, vol 109, iss 2

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Secondary, Cell Cycle Proteins, brain development, Neurodegenerative, medicine.disease_cause, Inbred C57BL, Nervous System, Protein Structure, Secondary, Transgenic, Cohort Studies, Mice, Gene Knockout Techniques, 0302 clinical medicine, 2.1 Biological and endogenous factors, Psychology, microcephaly, Aetiology, Cerebellar hypoplasia, Genetics, Mutation, General Neuroscience, neurodegeneration, Peptidylprolyl Isomerase, Pedigree, PRP17, RNA splicing, PCHM, cyclophilin, Neurological, Heredodegenerative Disorders, Nervous System, Female, Cognitive Sciences, RNA Splicing Factors, Heredodegenerative Disorders, Spliceosome, Protein Structure, Isomerase activity, proline isomerase, Pontocerebellar hypoplasia, Mice, Transgenic, Biology, 03 medical and health sciences, alternative splicing, Rare Diseases, Cerebellar Diseases, medicine, Animals, Humans, Amino Acid Sequence, Neurology & Neurosurgery, pontocerebellar hypoplasia, Alternative splicing, Human Genome, recessive disease, Neurosciences, medicine.disease, NMR, Protein Structure, Tertiary, Brain Disorders, Mice, Inbred C57BL, 030104 developmental biology, HEK293 Cells, Orphan Drug, Spliceosomes, spliceosome, 030217 neurology & neurosurgery, Tertiary, PPIL1

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef24cf589c2884c763b071aada9b96f
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf

المؤلفون: David T. Bonthron, Christopher M. Watson, Julian Adlard, Jennifer Simmonds, Nick Camm, Laura A. Crinnion

المصدر: Cancer genetics.

مصطلحات موضوعية: Adult, Male, Cancer Research, Computational biology, Biology, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, INDEL Mutation, Genetics, PMS2, Humans, Molecular Biology, Mismatch Repair Endonuclease PMS2, Sanger sequencing, Genome, Human, Robustness (evolution), Amplicon, Pedigree, Nanopore, Nanopore Sequencing, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), symbols, Female, Nanopore sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4861a3cdb9ae91738a5cfce4c119dfc
https://pubmed.ncbi.nlm.nih.gov/34116445

المؤلفون: Christopher M, Watson, Laura A, Crinnion, Helen, Lindsay, Rowena, Mitchell, Nick, Camm, Rachel, Robinson, Caroline, Joyce, George A, Tanteles, Domhnall J O', Halloran, Sergio D J, Pena, Ian M, Carr, David T, Bonthron

المصدر: Laboratory investigation; a journal of technical methods and pathology. 101(4)

مصطلحات موضوعية: Interspersed Repetitive Sequences, Mutagenesis, Insertional, Nanopore Sequencing, Neoplasms, DNA Mutational Analysis, Databases, Genetic, High-Throughput Nucleotide Sequencing, Humans, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d96468e837b212de3ae106da1490b490
https://pubmed.ncbi.nlm.nih.gov/32989232

المؤلفون: Ian M Carr, Christine P Diggle, Kamron Khan, Chris Inglehearn, Martin McKibbin, David T Bonthron, Alexander F Markham, Rashida Anwar, Angus Dobbie, Sergio D J Pena, Manir Ali

المصدر: PLoS ONE, Vol 7, Iss 8, p e43466 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3422275?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d168e93b68dd4b10b977255d9e742357

المؤلفون: Stephen D. Evans, Julia Gala de Pablo, Sally A. Peyman, Stephen L. Smith, Fern J. Armistead, Michael A. Lones, David T. Bonthron

المصدر: Journal of Raman Spectroscopy

مصطلحات موضوعية: 0301 basic medicine, HL60, Cell, colorectal cancer, 01 natural sciences, 010309 optics, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, 0103 physical sciences, medicine, metastasis, General Materials Science, Protein secondary structure, Research Articles, Spectroscopy, biology, Chemistry, Cytochrome c, single cell, 030104 developmental biology, medicine.anatomical_structure, Biochemistry, Cell culture, Raman spectroscopy, Principal component analysis, Nucleic acid, symbols, biology.protein, living cells, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c039e770a9b8f541cdcd1465d23fdb4
https://doi.org/10.1002/jrs.5389

المؤلفون: Carolina E. Pardo, Ian M. Carr, Christopher J. Hoffman, Russell P. Darst, Er F. Markham, David T. Bonthron, Michael P. Kladde

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/40/52/Nucleic_Acids_Res_2011_Jan_19_39(1)_e5.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.292.9737

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.292.9737

المؤلفون: Ian M. Carr, Elizabeth M. A. Valleley, Sarah F. Cordery, Er F. Markham, David T. Bonthron

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://nar.oxfordjournals.org/content/35/10/e79.full-text-lowres.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.532.4202; http://nar.oxfordjournals.org/content/35/10/e79.full-text-lowres.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.532.4202
http://nar.oxfordjournals.org/content/35/10/e79.full-text-lowres.pdf