المؤلفون: Richard Wooster, P. Andrew Futreal, Michael R. Stratton, David N. Louis, Tracy T. Batchelor, Wolf Mueller, Kymberly K. Levine, Jennifer E. Roy, Gregory Riggins, Douglas F. Easton, Andy Yates, Sara Widaa, Sofie West, Jennifer Varian, Calli Tofts, Helen Solomon, Alexandra Small, Rebecca Shepherd, David Richardson, Keiran Raine, Robert Petty, Janet Perry, Andrew Menzies, Richard Lugg, Ross Laman, Vivienne Kosmidou, David Jones, Andy Jenkinson, Jonathon Hinton, Katy Hills, Rachel Harrison, Kelly Halliday, Kristian Gray, Matthew Gorton, Simon Forbes, Ed Dicks, Jennifer Cole, Jody Clements, Adam Butler, Gemma Buck, Lisa Brackenbury, Syd Barthorpe, Tim Avis, Adrian Parker, Sarah O'Meara, Helen Davies, Graham Bignell, Sarah Edkins, Chris Greenman, Jon Teague, Claire Stevens, Philip Stephens, Daniel P. Cahill, Raffaella Smith, Chris Hunter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d0e7301459a6795af7b4fc360e50d5
https://doi.org/10.1158/0008-5472.22366754.v1

المؤلفون: Richard Wooster, P. Andrew Futreal, Michael R. Stratton, David N. Louis, Tracy T. Batchelor, Wolf Mueller, Kymberly K. Levine, Jennifer E. Roy, Gregory Riggins, Douglas F. Easton, Andy Yates, Sara Widaa, Sofie West, Jennifer Varian, Calli Tofts, Helen Solomon, Alexandra Small, Rebecca Shepherd, David Richardson, Keiran Raine, Robert Petty, Janet Perry, Andrew Menzies, Richard Lugg, Ross Laman, Vivienne Kosmidou, David Jones, Andy Jenkinson, Jonathon Hinton, Katy Hills, Rachel Harrison, Kelly Halliday, Kristian Gray, Matthew Gorton, Simon Forbes, Ed Dicks, Jennifer Cole, Jody Clements, Adam Butler, Gemma Buck, Lisa Brackenbury, Syd Barthorpe, Tim Avis, Adrian Parker, Sarah O'Meara, Helen Davies, Graham Bignell, Sarah Edkins, Chris Greenman, Jon Teague, Claire Stevens, Philip Stephens, Daniel P. Cahill, Raffaella Smith, Chris Hunter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843c39d3c59a93addd968798398f0edf
https://doi.org/10.1158/0008-5472.22366757

المؤلفون: Richard Wooster, P. Andrew Futreal, Michael R. Stratton, David N. Louis, Tracy T. Batchelor, Wolf Mueller, Kymberly K. Levine, Jennifer E. Roy, Gregory Riggins, Douglas F. Easton, Andy Yates, Sara Widaa, Sofie West, Jennifer Varian, Calli Tofts, Helen Solomon, Alexandra Small, Rebecca Shepherd, David Richardson, Keiran Raine, Robert Petty, Janet Perry, Andrew Menzies, Richard Lugg, Ross Laman, Vivienne Kosmidou, David Jones, Andy Jenkinson, Jonathon Hinton, Katy Hills, Rachel Harrison, Kelly Halliday, Kristian Gray, Matthew Gorton, Simon Forbes, Ed Dicks, Jennifer Cole, Jody Clements, Adam Butler, Gemma Buck, Lisa Brackenbury, Syd Barthorpe, Tim Avis, Adrian Parker, Sarah O'Meara, Helen Davies, Graham Bignell, Sarah Edkins, Chris Greenman, Jon Teague, Claire Stevens, Philip Stephens, Daniel P. Cahill, Raffaella Smith, Chris Hunter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ae2ab66f6628c677ca985204a900e72
https://doi.org/10.1158/0008-5472.22366760.v1

المؤلفون: Richard Wooster, P. Andrew Futreal, Michael R. Stratton, David N. Louis, Tracy T. Batchelor, Wolf Mueller, Kymberly K. Levine, Jennifer E. Roy, Gregory Riggins, Douglas F. Easton, Andy Yates, Sara Widaa, Sofie West, Jennifer Varian, Calli Tofts, Helen Solomon, Alexandra Small, Rebecca Shepherd, David Richardson, Keiran Raine, Robert Petty, Janet Perry, Andrew Menzies, Richard Lugg, Ross Laman, Vivienne Kosmidou, David Jones, Andy Jenkinson, Jonathon Hinton, Katy Hills, Rachel Harrison, Kelly Halliday, Kristian Gray, Matthew Gorton, Simon Forbes, Ed Dicks, Jennifer Cole, Jody Clements, Adam Butler, Gemma Buck, Lisa Brackenbury, Syd Barthorpe, Tim Avis, Adrian Parker, Sarah O'Meara, Helen Davies, Graham Bignell, Sarah Edkins, Chris Greenman, Jon Teague, Claire Stevens, Philip Stephens, Daniel P. Cahill, Raffaella Smith, Chris Hunter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::588bec3d7e4554e771f3e1702e327bb2
https://doi.org/10.1158/0008-5472.c.6495272.v1

المؤلفون: Anders Kvanta, Nalini Rangaswamy, Karen Holopigian, Christine Watters, Nicki Jennings, Melissa S. H. Liew, Chad Bigelow, Cynthia Grosskreutz, Marie Burstedt, Abinaya Venkataraman, Sofie Westman, Asbjörg Geirsdottir, Kalliopi Stasi, Helder André

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/3edf795df36e4c739287664b808fdee1

المؤلفون: Rose-Marie Lindkvist, Joachim Eckerström, Kajsa Landgren, Sofie Westling

المصدر: International Journal of Qualitative Studies on Health & Well-Being, Vol 19, Iss 1 (2024)

مصطلحات موضوعية: self-harm, suicidal ideation, brief admission, relatives, prevention, reflexive thematic analysis, psychiatric inpatient care, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1748-2623; https://doaj.org/toc/1748-2631

URL الوصول: https://doaj.org/article/ebf5fbb24f0d48669620b75a4688d1ef

المؤلفون: Reid Lantto, Rose-Marie Lindkvist, Tomas Jungert, Sofie Westling, Kajsa Landgren

المصدر: Child and Adolescent Psychiatry and Mental Health, Vol 17, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Phenomenology, Qualitative research, Self-harm, Suicidal ideation, Brief Admission, Self-admission, Pediatrics, RJ1-570, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1753-2000

URL الوصول: https://doaj.org/article/3593488ef44143f1ad860d9e06d38f00

المؤلفون: Natalie Laporte, Andrejs Ozolins, Sofie Westling, Åsa Westrin, Märta Wallinius

المصدر: BMC Psychiatry, Vol 23, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Self-harm, Non-suicidal self-injury, NSSI, Suicide attempt, Forensic psychiatry, Childhood sexual abuse, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-244X

URL الوصول: https://doaj.org/article/0f6c4a2fa08a49e9b10746bdcbfde018

المؤلفون: Sarah Edkins, Sinitdhorn Rujirabanjerd, Charles E. Schwartz, Cheryl Shoubridge, Jamel Chelly, Kelly Turrell, Sofie West, Matt Blow, Richard Wooster, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Yali Xue, Michael R. Stratton, Francisco Martínez, Annabel Whibley, Sarah O’Meara, Lucianne Vandeleur, Jozef Gecz, Calli Latimer, Arjan P.M. de Brouwer, Michael Field, Sara Widaa, Eric Haan, Kristian Gray, John Tolmie, Rebecca Shepherd, Tatiana Mironenko, Paul Wray, Chris Tyler-Smith, Rachel Turner, David T. Jones, Anna Hackett, Ed Dicks, Martine Raynaud, Erin Pleasance, Christopher Greenman, Fatima Abidi, Jenny Moon, Rene Goliath, P. Andrew Futreal, Gemma L. Carvill, Roger E. Stevenson, Gillian Turner, Claire Hardy, Deborah J. Thompson, Phil Stephens, Patrick S. Tarpey, Rebecca Dunmore, Andrew M. Jenkinson, Martin Bobrow, Raffaella Smith, Syd Barthorpe, Gemma Buck, Tod Fullston, James J. Cox, Jennifer Varian, Mark A. Corbett, Uma Mallya, M Isabel Tejada, Jackie Boyle, David S. Richardson, Anand Srivastava, Mark Maddison, Jenny Andrews, Hilde Van Esch, Hans-Hilger Ropers, Adam Butler, Jon W. Teague, Shehla Mohammed, Alison Gardner, Josef Parnau, Hans van Bokhoven, Andrew Menzies, Mingming Jia, Michael Partington, Marie Shaw, Cindy Skinner, Jennifer Cole

المصدر: NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Nature Genetics, 41, 535-43
Nature Genetics, 41, 5, pp. 535-43

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], X-linked intellectual disability, Sequence analysis, Biology, DNA sequencing, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, CASK, Gene, Loss function, X chromosome, 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Chromosome Mapping, Genetic Variation, Exons, Sequence Analysis, DNA, medicine.disease, Pedigree, Mental Retardation, X-Linked, Female, Human genome, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4af73c9d0d558052bb2843135195724
https://hdl.handle.net/2066/79687

المؤلفون: Linnéa Nöbbelin, Mats Bogren, Cecilia Mattisson, Sofie Westling, Louise Brådvik

المصدر: Frontiers in Psychiatry, Vol 14 (2023)

مصطلحات موضوعية: melancholic depression, depression, course, recurrence, epidemiology, suicide, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1216431/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/048944dc6da64b6da9ba25a91d4c5c63

المؤلفون: Kelly Halliday, F. Lucy Raymond, Kristian Gray, Sofie West, Rebecca Shepherd, Sara Widaa, Syd Barthorpe, P. Andrew Futreal, Gillian Turner, H. E. Hughes, Claire Stevens, Alexandra Small, Mark A. Corbett, Andrew M. Jenkinson, Gemma Buck, Roger E. Stevenson, Sarah O’Meara, Raffaella Smith, Marie Shaw, Jozef Gecz, David S. Richardson, Andrew Menzies, Calli Tofts, Janet Perry, Uma Mallya, Jennifer Varian, Michael R. Stratton, John C. Mulley, Tatiana Mironenko, David T. Jones, Michael Partington, Patrick S. Tarpey, Ed Dicks, Richard Wooster, Martin Bobrow, Jenny Moon, Jennifer Cole, Sarah Edkins, Charles E. Schwartz, Ying Luo, Keiran Raine, Katy Hills, Adam Butler, Michael Field, Jon W. Teague, Kathryn Friend

المصدر: The American Journal of Human Genetics. 81(2):367-374

مصطلحات موضوعية: Male, Biology, medicine.disease_cause, Report, Intellectual disability, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), Gene, Genetics (clinical), X chromosome, Mutation, Macrocephaly, medicine.disease, Phenotype, Bromodomain, Pedigree, Developmental disorder, Mental Retardation, X-Linked, medicine.symptom, Head, Sequence Alignment, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8a751d98f32479c99f003601ddfbd4

المؤلفون: Sophie I. Liljedahl, Daiva Daukantaitė, Nikolaus Kleindienst, Margit Wångby-Lundh, Sofie Westling

المصدر: Frontiers in Psychiatry, Vol 14 (2023)

مصطلحات موضوعية: self-harm, 5S-HM, unified theoretical model of self-harm, sexual self-harm, indirect self-harm, harmful self-neglect, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1147206/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/6572f158032e4722957b963a25f1c76a

المؤلفون: Lucy Stebbings, Syd Barthorpe, Sarah O’Meara, Michael R. Stratton, Richard J. Kahnoski, Lee Mulderrig, Bin Tean Teh, Ronald A. DePinho, Laura Mudie, Mark Maddison, Catherine Leroy, Giovanni Tonon, Philip J. Stephens, Jenny Andrews, David J. McBride, Yu-Tzu Tai, John Wong, Sok Kean Khoo, Meng-Lay Lin, Tatiana Mironenko, Aaron Massie, Claire Hardy, Rachel Turner, David T. Jones, Calli Latimer, Jennifer Cole, Sarah Edkins, Dave Beare, Sofie West, Peter J. Campbell, V. Peter Collins, Helen Davies, Sara Widaa, Graham R. Bignell, Mingming Jia, Patrick S. Tarpey, Gijs van Haaften, Jennifer Varian, Gurpreet Tang, Adam Butler, Chai Yin Kok, Simon Law, Gillian L. Dalgliesh, Raffaella Smith, Koichi Ichimura, Rebecca Shepherd, Jon W. Teague, Erin Pleasance, Kirsten McLay, Simon Maquire, Gemma Buck, Suet Yi Leung, Paul Wray, Andrew Menzies, Simon A. Forbes, Christopher Greenman, P. Andrew Futreal, Kelly Turrell, Jonathan Hinton, Lina Chen, Siu Tsan Yuen, Kenneth C. Anderson

المساهمون: van Haaften, G, Dalgliesh, Gl, Davies, H, Chen, L, Bignell, G, Greenman, C, Edkins, S, Hardy, C, O'Meara, S, Teague, J, Butler, A, Hinton, J, Latimer, C, Andrews, J, Barthorpe, S, Beare, D, Buck, G, Campbell, Pj, Cole, J, Forbes, S, Jia, M, Jones, D, Kok, Cy, Leroy, C, Lin, Ml, Mcbride, Dj, Maddison, M, Maquire, S, Mclay, K, Menzies, A, Mironenko, T, Mulderrig, L, Mudie, L, Pleasance, E, Shepherd, R, Smith, R, Stebbings, L, Stephens, P, Tang, G, Tarpey, P, Turner, R, Turrell, K, Varian, J, West, S, Widaa, S, Wray, P, Collins, Vp, Ichimura, K, Law, S, Wong, J, Yuen, St, Leung, Sy, Tonon, G, Depinho, Ra, Tai, Yt, Anderson, Kc, Kahnoski, Rj, Massie, A, Khoo, Sk, Teh, Bt, Stratton, Mr, Futreal, Pa.

المصدر: Nature genetics

مصطلحات موضوعية: Jumonji Domain-Containing Histone Demethylases, Methyltransferase, medicine.disease_cause, Article, Epigenesis, Genetic, 03 medical and health sciences, Histone H3, 0302 clinical medicine, Germline mutation, Neoplasms, Genetics, medicine, Humans, Epigenetics, 030304 developmental biology, 0303 health sciences, Mutation, biology, Oxidoreductases, N-Demethylating, Methylation, Histone, 030220 oncology & carcinogenesis, Cancer research, biology.protein, Demethylase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d9e8c3ef377785f22bae6703833abbd
https://doi.org/10.1038/ng.349

المؤلفون: Jonas Bjärehed, Evelina Ingelsson Lindell, Sofie Westling

المصدر: Nursing Open, Vol 8, Iss 4, Pp 1660-1667 (2021)

مصطلحات موضوعية: psychiatric nursing, self‐harm, Nursing, RT1-120

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-1058

URL الوصول: https://doaj.org/article/54e5e5a0417345f3ae02dee66a75e33a

المؤلفون: Lucianne Vandeleur, Amos D. Korczyn, Michael R. Stratton, Andrew M. Jenkinson, Samantha J. Turner, Gemma Buck, Raffaella Smith, Tatiana Mironenko, David T. Jones, Syd Barthorpe, Adam Butler, Samuel F. Berkovic, Ingrid E. Scheffer, Mark A. Corbett, Zaid Afawi, Sarah O’Meara, Leanne M. Dibbens, Kelly Halliday, Paul Q. Thomas, Andrew Menzies, Daniel H. Geschwind, Jozef Gecz, Marta A. Bayly, John Teague, Tally Lerman-Sagie, Paul Wray, James F. Gusella, Shane McKee, John C. Mulley, Sofie West, Christopher P. Derry, Eric Haan, Hyung Goo Kim, Dorit Lev, Rebecca Shepherd, Aziz Mazarib, Calli Tofts, Rebecca Lee, Mark Madison, Marie Shaw, Edwina Sutton, Jennifer Cole, Sarah Edkins, Grant R. Sutherland, Claire Stevens, Cheryl Shoubridge, Jamee M. Bomar, Jennifer Varian, Miriam Y. Neufeld, Stephen G Ryan, Ed Dicks, Patrick S. Tarpey, Kim Hynes, Sara Widaa, P. Andrew Futreal, Sara Kivity, Kathryn Friend

المساهمون: Dibbens, Leanne M, Tarpey, Patrick S, Hynes, Kim, Bayly, Marta A, Gecz, Jozef

مصطلحات موضوعية: Male, medicine.medical_specialty, Mutation, Missense, Protocadherin, Gene mutation, Biology, medicine.disease_cause, Epilepsy, Genomic Imprinting, Mice, Basic Science, Genes, X-Linked, Genetics, medicine, Missense mutation, Animals, Humans, RNA, Messenger, Gene, X chromosome, In Situ Hybridization, Skin, Mutation, Chromosomes, Human, X, Reverse Transcriptase Polymerase Chain Reaction, Brain, Gene Expression Regulation, Developmental, Fibroblasts, medicine.disease, Cadherins, Protocadherins, Pedigree, Phenotype, Codon, Nonsense, Case-Control Studies, Mental Retardation, X-Linked, Medical genetics, Female, Cognition Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31979957e8a81d88068cf27150e29bef
https://hdl.handle.net/1959.8/128633

المؤلفون: David N. Louis, Syd Barthorpe, Peter J. Campbell, Richard Wooster, Claire Stevens, Douglas F. Easton, Daniel P. Cahill, Ewan Birney, Keiran Raine, Simon A. Forbes, Gurpreet Bhamra, Jon Hinton, Michael R. Stratton, Tim Avis, Barbara L. Weber, Andy Menzies, Bhudipa Choudhury, Yoke Eng Chiew, Andrew D. Yates, Georgia Chenevix-Trench, Imre Vastrik, Gillian L. Dalgliesh, Andrew G. Nicholson, Alexandra Small, Ed Dicks, Janet Perry, Anthony R. Green, Sarah O’Meara, Raffaella Smith, Rachel Harrison, Bin Tean Teh, Sofie West, Tony Webb, Adam Butler, Sara Widaa, Gemma Buck, Rebecca Shepherd, Jennifer Cole, Sarah Edkins, Jennifer Varian, Peter Goldstraw, Andy Jenkinson, Jon W. Teague, Helen Davies, Sok Kean Khoo, Kris Gray, Suet Yi Leung, Calli Tofts, Dave Richardson, Christopher Greenman, P. Andrew Futreal, Tatiana Mironenko, Jody Clements, David T. Jones, Anna deFazio, Katy Hills, Kelly Halliday, Min-Han Tan, Siu Tsan Yuen, Philip J. Stephens, Christopher I. Hunter, Francis Brasseur, Leendert H. J. Looijenga, Mel Greaves, Esther Schmidt, Graham R. Bignell

مصطلحات موضوعية: DNA Mutational Analysis, Molecular Sequence Data, Genomics, Biology, medicine.disease_cause, Genome, Article, Germline mutation, Neoplasms, medicine, Humans, Amino Acid Sequence, Genetics, Mutation, Multidisciplinary, Genome, Human, Cancer, medicine.disease, Neoplasm Proteins, Kataegis, Human genome, Carcinogenesis, Protein Kinases, Genes, Neoplasm

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8181b6b39035a77f21373fb15d405e3d
https://europepmc.org/articles/PMC2712719/

المؤلفون: Patrick S. Tarpey, Richard Wooster, Tatiana Mironenko, David T. Jones, Michael R. Stratton, Jackie Boyle, Claire Stevens, Sarah F. Smithson, Janet Perry, Alexandra Small, Kelly Halliday, Sara Widaa, Syd Barthorpe, Jennifer Varian, David S. Richardson, Anand Srivastava, Lucianne Vandeleur, Sarah O’Meara, Jozef Gecz, Charles E. Schwartz, Jenny Moon, Jennifer Cole, Ed Dicks, Tim Avis, Sarah Edkins, Susan E. Holder, Andrew Menzies, Roger E. Stevenson, Gillian Turner, Andrew M. Jenkinson, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Jill Clayton-Smith, Jane A. Hurst, Gemma Buck, Jayson Rodriguez, Rachel Harrison, Keiran Raine, Marie Shaw, Rebecca Shepherd, Katy Hills, Calli Tofts, Uma Mallya, Bronwyn Kerr, Adam Butler, Jon W. Teague, Rachel Slaugh, Sofie West, P. Andrew Futreal, Martin Bobrow, Michael Partington, Kristian Gray

مصطلحات موضوعية: Foot Deformities, Male, medicine.medical_specialty, Pes cavus, Ubiquitin-Protein Ligases, Molecular Sequence Data, Poison control, Short stature, 03 medical and health sciences, 0302 clinical medicine, Seizures, Internal medicine, Report, Tremor, Genetics, medicine, Missense mutation, Humans, Genetics(clinical), Abnormalities, Multiple, Amino Acid Sequence, Obesity, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, business.industry, Hypogonadism, Macrocephaly, medicine.disease, Cullin Proteins, Ubiquitin ligase, Aggression, Protein Subunits, Endocrinology, Child, Preschool, Mutation, biology.protein, Mental Retardation, X-Linked, Intention tremor, CUL4B, medicine.symptom, business, Head, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02448979caa304c89b5488e2b60debc7
https://europepmc.org/articles/PMC1785336/

المؤلفون: Syd Barthorpe, Mark A. Corbett, George Hoganson, Doug A. Brooks, John Teague, Richard Wooster, Claire Stevens, Charles E. Schwartz, Janet Perry, Jennifer Varian, Jennifer Cole, Sarah Edkins, P. Andrew Futreal, John P. Warner, Jayson Rodriguez, David S. Richardson, Anand Srivastava, Paul Q. Thomas, Jenny Moon, Gillian Turner, F. Lucy Raymond, Cheryl Shoubridge, Michael R. Stratton, Duane W Superneau, Andrew Menzies, Patrick S. Tarpey, Adam Butler, Lam Son Nguyen, Raffaella Smith, Martin Bobrow, Sofie West, Pauline Pearson, Tracy Sanderson, Sarah O’Meara, Katy Hills, Emma J. Parkinson-Lawrence, Jozef Gecz, Andrew M. Jenkinson, Rebecca Shepherd, Gemma Buck, Alison Gardner, Kelly Halliday, Josep Parnau, Anna Hackett, Keiran Raine, Richard J. Simensen, Sara Widaa, Cindy Skinner, Calli Tofts, Mary Porteous, Roger E. Stevenson, Tatiana Mironenko, Shambhu Bhat, David T. Jones, Lucianne Vandeleur, Ed Dicks, Yin Luo

المساهمون: Tarpey, Patrick, Raymond, F Lucy, Nguyen, Lam, Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, Smith, Raffaella, Shoubridge, Cheryl, Edkins, Sarah, Stevens, Claire, O'Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Hills, Katy

مصطلحات موضوعية: Male, RNA Stability, DNA Mutational Analysis, Immunoblotting, Molecular Sequence Data, Nonsense-mediated decay, RNA-binding protein, Biology, medicine.disease_cause, Article, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, RNA, Messenger, Gene, X chromosome, Cell Line, Transformed, Family Health, Mutation, Messenger RNA, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, RNA-Binding Proteins, Syndrome, Phenotype, Pedigree, Codon, Nonsense, Mental Retardation, X-Linked, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fbdc66e723f0bfd983aba61027bf26
https://hdl.handle.net/1959.8/48618

المؤلفون: Andy Jenkinson, Janet Perry, Jennifer Varian, Michael R. Stratton, Tony Webb, Claire Stevens, Tim Avis, Alex Small, Lisa Brackenbury, Kristian Gray, David S. Richardson, Kelly Halliday, Thomas Santarius, Ogechi Ikediobi, Graham R. Bignell, Syd Barthorpe, Keiran Raine, Calli Tofts, Andrew Menzies, Jennifer Cole, Sarah Edkins, Rachel Harrison, Sarah O’Meara, Raffaella Smith, Jody Clements, Helen Davies, Rebecca Shepherd, Helen Solomon, Tatiana Mironenko, Adrian Parker, David T. Jones, John N. Weinstein, Christopher I. Hunter, Katy Hills, William C. Reinhold, P. Andrew Futreal, Vivienne Kosmidou, Jonathan Hinton, Adam Butler, Jon W. Teague, Andrew D. Yates, Philip J. Stephens, Gemma Buck, Richard Lugg, Ed Dicks, Simon A. Forbes, Richard Wooster, Sara Widaa, Sofie West

المصدر: Molecular cancer therapeutics. 5(11)

مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, Cancer Research, Sequence analysis, DNA Mutational Analysis, medicine.disease_cause, Article, Cell Line, Tumor, medicine, PTEN, Humans, HRAS, Genetics, Mutation, biology, Gene Expression Profiling, Homozygote, Cancer, Exons, medicine.disease, Oncology, biology.protein, KRAS, RNA Splice Sites, Carcinogenesis, Gene Deletion, Genes, Neoplasm

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a23ce5956c82521e5c3c6ccd4840927
https://pubmed.ncbi.nlm.nih.gov/17088437

المؤلفون: Claire Stevens, Jody Clements, Katy Hills, Ross Laman, Jennifer E. Roy, David S. Richardson, Jennifer Cole, Sarah Edkins, Christopher Greenman, Kelly Halliday, Sofie West, Helen Davies, Matthew Gorton, Sara Widaa, Richard Wooster, Adam Butler, Richard Lugg, Raffaella Smith, Tracy T. Batchelor, Lisa Brackenbury, Jon W. Teague, Gregory J. Riggins, Andy Jenkinson, Adrian Parker, Syd Barthorpe, Christopher I. Hunter, Simon A. Forbes, Michael R. Stratton, Wolf Mueller, Douglas F. Easton, Janet Perry, Jennifer Varian, Sarah O’Meara, David N. Louis, Helen Solomon, David T. Jones, Ed Dicks, Rachel Harrison, P. Andrew Futreal, Rebecca Shepherd, Philip J. Stephens, Keiran Raine, Tim Avis, Kristian Gray, Gemma Buck, Daniel P. Cahill, Andrew D. Yates, Vivienne Kosmidou, Jonathon Hinton, Robert Petty, Andrew Menzies, Graham R. Bignell, Calli Tofts, Alexandra Small, Kymberly K. Levine

المصدر: Cancer Res

مصطلحات موضوعية: Male, Cancer Research, Somatic cell, Mutagenesis (molecular biology technique), Somatic hypermutation, Biology, medicine.disease_cause, Article, Germline mutation, medicine, Temozolomide, Humans, Antineoplastic Agents, Alkylating, Aged, Mutation, Brain Neoplasms, Glioma, Middle Aged, MSH6, DNA-Binding Proteins, Dacarbazine, Oncology, Cancer research, DNA mismatch repair, Female, Neoplasm Recurrence, Local, Protein Kinases, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa969034dc593f7ea0e864ded4c8df4
https://europepmc.org/articles/PMC7212022/