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1دورية أكاديمية
المؤلفون: Sangermano, R, Garanto, A, Khan, M, Runhart, EH, Bauwens, M, Bax, NM, van den Born, LI, Khan, MI, Cornelis, SS, Verheij, JBGM, Pott, JWR, Thiadens, AAHJ, Klaver, CCW, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, KJ, Raymond, FL, Webster, AR, Dhaenens, CM, Stohr, H, Grassmann, F, Weber, BHF, Hoyng, CB, De Baere, E, Albert, S, Collin, RWJ, Cremers, FPM
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1751-1760
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC
المصدر: American journal of human genetics. 103(5):666-678
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3دورية أكاديمية
المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Sadeghpour, A, Davis, EE, Katsanis, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC
المصدر: American journal of human genetics. 104(3):562-562
مصطلحات موضوعية: Medicin och hälsovetenskap
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4
المؤلفون: French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH
المساهمون: Raymond, F Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository
المصدر: 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
Intensive Care Medicine
French, C E, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, R G, Firth, H, Williamson, C & Rowitch, D H & Raymond, F L & Dixon, P 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-xمصطلحات موضوعية: Male, NICU, medicine.medical_specialty, Palliative care, Adolescent, PICU, Original, Critical Illness, Critically ill children, Genomics, Critical Care and Intensive Care Medicine, Intensive Care Units, Pediatric, State Medicine, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Anesthesiology, Intensive care, Intensive Care Units, Neonatal, Genetics, Medicine, Humans, Prospective Studies, Medical diagnosis, Intensive care medicine, Prospective cohort study, Child, Whole genome sequencing, Whole Genome Sequencing, business.industry, Genetic Diseases, Inborn, Infant, Newborn, Infant, 030208 emergency & critical care medicine, 030228 respiratory system, England, FOS: Biological sciences, Child, Preschool, Female, business, Genetic Background, Cohort study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fea855d42d553df60c3de14262258d3
https://doi.org/10.1007/s00134-019-05552-x -
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المؤلفون: Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, KJ, Raymond, FL, Cheetham, ME, Webster, AR, Downes, SM, Hardcastle, AJ, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b9d566cf575589e7b41412cd5ddef97b
https://ora.ox.ac.uk/objects/uuid:b0b9b9f3-e06b-497f-90f9-91985dabb436 -
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المؤلفون: Khan, KN, Robson, A, Mahroo, OAR, Arno, G, Inglehearn, CF, Armengol, M, Waseem, N, Holder, GE, Carss, KJ, Raymond, LF, Webster, AR, Moore, AT, McKibbin, M, Van Genderen, MM, Poulter, JA, Michaelides, M
وصف الملف: application/pdf
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7
المؤلفون: Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Pérez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA
المساهمون: Apollo - University of Cambridge Repository
المصدر: NATURE GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: DNA-Binding Proteins, Histones, Male, Dystonia, Adolescent, Lysine, Mutation, Histone Methyltransferases, Humans, Nuclear Proteins, Female, Histone-Lysine N-Methyltransferase, Methylation
وصف الملف: application/pdf
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8
المؤلفون: Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Pérez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS
المصدر: MOVEMENT DISORDERS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Movement Disorders
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: dyskinesia, cerebral palsy, chorea, dystonia, adenylyl cyclase, Research Articles, nervous system diseases, Research Article
وصف الملف: application/pdf
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9دورية أكاديمية
المؤلفون: Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Megy K; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK., Stephens J; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Armirola Ricaurte C; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Dewhurst E; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Low K; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., French CE; Clinical Medical School, University of Cambridge, Cambridge, UK., Grozeva D; Department of Medical Genetics, University of Cambridge, Cambridge, UK; Centre for Trials Research, Cardiff University, Cardiff, UK., Stirrups K; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Erwood M; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., McTague A; Molecular Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Penkett CJ; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Shamardina O; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Tuna S; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Daugherty LC; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Gleadall N; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Duarte ST; Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal., Hedrera-Fernández A; Pediatric Neurology Department, Hospital Universitario Central de Asturias, Asturias, Spain., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Ambegaonkar G; Child Development Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Chitre M; Clinical Medical School, University of Cambridge, Cambridge, UK., Josifova D; Guy's and St Thomas' Hospital, London, UK., Kurian MA; Molecular Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK., Parker A; Clinical Medical School, University of Cambridge, Cambridge, UK; Child Development Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Reid E; Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, UK., Wakeling E; North West Thames Regional Genetics Service, Harrow, UK., Wassmer E; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK., Woods CG; Clinical Medical School, University of Cambridge, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Raymond FL; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK. Electronic address: flr24@cam.ac.uk., Carss KJ; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. Electronic address: keren.carss@astrazeneca.com.
مؤلفون مشاركون: NIHR BioResource
المصدر: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1343-1355.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Genome, Human*/genetics , Neurodevelopmental Disorders*/genetics, Humans ; Chromosome Mapping ; Base Sequence ; INDEL Mutation
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10دورية أكاديمية
المؤلفون: Carss KJ; AstraZeneca, R&D, Cambridge, UK., Deaton AM; Amgen, Cambridge, MA, USA.; Alnylam Pharmaceuticals, Cambridge, MA, USA., Del Rio-Espinola A; Novartis Institutes for BioMedical Research, Basel, Switzerland.; GentiBio Inc., Cambridge, MA, USA., Diogo D; Takeda, Cambridge, MA, USA., Fielden M; Amgen, Thousand Oaks, MA, USA.; Kate Therapeutics, San Diego, CA, USA., Kulkarni DA; GlaxoSmithKline, Collegeville, PA, USA., Moggs J; Novartis Institutes for BioMedical Research, Basel, Switzerland., Newham P; AstraZeneca, R&D, Cambridge, UK., Nelson MR; Deerfield Management Company, L.P., New York, NY, USA., Sistare FD; Merck & Co., West Point, PA, USA.; 315 Meadowmont Ln, Chapel Hill, NC, USA., Ward LD; Amgen, Cambridge, MA, USA. lward@alnylam.com.; Alnylam Pharmaceuticals, Cambridge, MA, USA. lward@alnylam.com., Yuan J; Amgen, Cambridge, MA, USA.; Pfizer, Cambridge, MA, USA.
المصدر: Nature reviews. Drug discovery [Nat Rev Drug Discov] 2023 Feb; Vol. 22 (2), pp. 145-162. Date of Electronic Publication: 2022 Oct 19.
نوع المنشور: Journal Article; Review
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101124171 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-1784 (Electronic) Linking ISSN: 14741776 NLM ISO Abbreviation: Nat Rev Drug Discov Subsets: MEDLINE
مواضيع طبية MeSH: Genome-Wide Association Study* , Human Genetics*, Animals ; Humans
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