Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Reijns MA"'
Autor:
Benitez-Guijarro M; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain., Lopez-Ruiz C; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain., Tarnauskaitė Ž; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Murina O; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Mian Mohammad M; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Williams TC; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Fluteau A; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Sanchez L; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain., Vilar-Astasio R; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain., Garcia-Canadas M; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain., Cano D; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain., Kempen MH; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Sanchez-Pozo A; Department of Biochemistry and Molecular Biology II, Faculty of Pharmacy, University of Granada, Granada, Spain., Heras SR; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain.; Department of Biochemistry and Molecular Biology II, Faculty of Pharmacy, University of Granada, Granada, Spain., Jackson AP; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Reijns MA; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK martin.reijns@igmm.ed.ac.uk jose.garcia-perez@igmm.ed.ac.uk., Garcia-Perez JL; GENYO, Centro de Genómica e Investigación Oncológica: Pfizer - Universidad de Granada - Junta de Andalucía, PTS, Granada, Spain martin.reijns@igmm.ed.ac.uk jose.garcia-perez@igmm.ed.ac.uk.; MRC Human Genetics Unit, MRC, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.
Publikováno v:
The EMBO journal [EMBO J] 2018 Aug 01; Vol. 37 (15). Date of Electronic Publication: 2018 Jun 29.
Autor:
Reynolds JJ; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Bicknell LS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Carroll P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Murray JE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Papadopoulos DK; Max-Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany., Leitch A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Murina O; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Tarnauskaitė Ž; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Wessel SR; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Zlatanou A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Vernet A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., von Kriegsheim A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Mottram RM; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Logan CV; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Bye H; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK., Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Brean A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Challis RC; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Skouloudaki K; Max-Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany., Almoisheer A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Amar A; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK., Prescott NJ; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK., Bober MB; Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA., Duker A; Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Al Tala S; Armed Forces Hospital, SR. P.D. Genetic Unit. Khamis Mushayt, Saudi Arabia., Alswaid A; Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Ahmed S; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia., Al-Aama JY; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia., Altmüller J; Cologne Center for Genomics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Al Balwi M; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia., Brady AF; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK., Chessa L; Department of Clinical and Molecular Medicine, University La Sapienza, Roma, Italy., Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's Hospital, West Midlands, UK., Fischetto R; Pediatric Hospital Giovanni XXIII, Bari, Italy., Heller R; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany., Henderson BD; Divison of Clinical Genetics, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa., Hobson E; Department of Genetics, Yorkshire Regional Genetic service, Chapel Allerton Hospital, Leeds, UK., Nürnberg P; Cologne Center for Genomics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Percin EF; Department of Medical Genetics, Gazi University Faculty of Medicine, Besevler Ankara, Turkey., Peron A; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.; Child Neuropsychiatry Unit-Epilepsy Center, San Paolo University Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Spaccini L; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy., Quigley AJ; Dept of Radiology, Royal Hospital for Sick Children, Edinburgh, UK., Thakur S; Department of Genetic and Fetal Medicine, Fortis Lafemme, New Delhi, India., Wise CA; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA., Yoon G; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Canada.; Department of Pediatrics, Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, Canada., Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Tomancak P; Max-Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Taylor AM; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Reijns MA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Simpson MA; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK., Cortez D; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Mathew CG; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK.; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Jackson AP; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Stewart GS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Publikováno v:
Nature genetics [Nat Genet] 2017 Apr; Vol. 49 (4), pp. 537-549. Date of Electronic Publication: 2017 Feb 13.
Autor:
Mackenzie KJ; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Carroll P; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Lettice L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Tarnauskaitė Ž; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Reddy K; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Dix F; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Revuelta A; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Abbondati E; Roslin Institute, The University of Edinburgh, Edinburgh, UK., Rigby RE; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Rabe B; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Kilanowski F; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Grimes G; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Fluteau A; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Devenney PS; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Hill RE; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Reijns MA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Jackson AP; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK andrew.jackson@igmm.ed.ac.uk.
Publikováno v:
The EMBO journal [EMBO J] 2016 Apr 15; Vol. 35 (8), pp. 831-44. Date of Electronic Publication: 2016 Feb 22.
Autor:
Ding J; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Taylor MS; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Jackson AP; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Reijns MA; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.
Publikováno v:
Nature protocols [Nat Protoc] 2015 Sep; Vol. 10 (9), pp. 1433-44. Date of Electronic Publication: 2015 Aug 27.
Autor:
Günther C, Kind B, Reijns MA, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee YA, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell KR, Ramantani G, Bauerfeind A, Morris DL, Cunninghame Graham DS, Bubeck D, Leitch A, Ralston SH, Blackburn EA, Gahr M, Witte T, Vyse TJ, Melchers I, Mangold E, Nöthen MM, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs JD, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme ME, Jackson AP, Lee-Kirsch MA
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2015 Jan; Vol. 125 (1), pp. 413-24. Date of Electronic Publication: 2014 Dec 15.
Autor:
Reijns MA; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, U.K., Jackson AP; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, U.K.
Publikováno v:
Biochemical Society transactions [Biochem Soc Trans] 2014 Aug; Vol. 42 (4), pp. 717-25.
Autor:
Rigby RE; MRC Human Genetics Unit, MRC IGMM University of Edinburgh, Edinburgh, UK., Webb LM, Mackenzie KJ, Li Y, Leitch A, Reijns MA, Lundie RJ, Revuelta A, Davidson DJ, Diebold S, Modis Y, MacDonald AS, Jackson AP
Publikováno v:
The EMBO journal [EMBO J] 2014 Mar 18; Vol. 33 (6), pp. 542-58. Date of Electronic Publication: 2014 Feb 10.
Autor:
Rice GI; Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, United Kingdom., Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ
Publikováno v:
Human mutation [Hum Mutat] 2013 Aug; Vol. 34 (8), pp. 1066-70. Date of Electronic Publication: 2013 May 13.
Autor:
Ghodgaonkar MM; Institute of Molecular Cancer Research of the University of Zurich and ETH Zurich, Winterthurerstrasse 190, 8057 Zurich, Switzerland., Lazzaro F, Olivera-Pimentel M, Artola-Borán M, Cejka P, Reijns MA, Jackson AP, Plevani P, Muzi-Falconi M, Jiricny J
Publikováno v:
Molecular cell [Mol Cell] 2013 May 09; Vol. 50 (3), pp. 323-32. Date of Electronic Publication: 2013 Apr 18.
Autor:
Reijns MA; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Rabe B, Rigby RE, Mill P, Astell KR, Lettice LA, Boyle S, Leitch A, Keighren M, Kilanowski F, Devenney PS, Sexton D, Grimes G, Holt IJ, Hill RE, Taylor MS, Lawson KA, Dorin JR, Jackson AP
Publikováno v:
Cell [Cell] 2012 May 25; Vol. 149 (5), pp. 1008-22. Date of Electronic Publication: 2012 May 10.