Zobrazeno 1 - 10
of 497
pro vyhledávání: '"Murch O"'
Autor:
Sloper E; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK emilysloper@nhs.net., Jezkova J; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Thomas J; Faculty of Life Science and Education, University of South Wales, Pontypridd, UK., Dawson K; School of Medicine, Cardiff University, Cardiff, UK., Halstead J; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Gardner J; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Burke K; Neonatal Intensive Care Unit, Singleton Hospital, Swansea, UK., Oruganti S; Paediatric Critical Care Unit, Noah's Ark Children's Hospital for Wales, Cardiff, UK.; College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK., Calvert J; Neonatal Intensive Care Unit, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Evans J; Child Health, Children's Hospital for Wales, Cardiff, UK., Anderson S; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Corrin S; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Pottinger C; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK., Murch O; All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK.
Publikováno v:
Archives of disease in childhood [Arch Dis Child] 2024 Apr 18; Vol. 109 (5), pp. 409-413. Date of Electronic Publication: 2024 Apr 18.
Autor:
Jain V; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. vani.jain@wales.nhs.uk., Foo SH; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; Department of Dermatology, Gleneagles Hospital Medini, Nusajaya, 79250, Johor, Malaysia., Chooi S; School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK., Moss C; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK., Goodwin R; Department of Dermatology, Royal Gwent Hospital, Newport, NP20 2UB, UK., Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Clarke AJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Davies SJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Corrin S; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Doyle S; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland.; Department of Clinical Genetics, The National Maternity Hospital, Holles Street, Dublin, D02 YH21, Ireland., Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, K1H 8L1, Canada., Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., Holder SE; North West Thames Regional Genetic Service, Kennedy Galton Centre, Northwick Park Hospital, Harrow, HA1 3UJ, UK., Johnson D; Department of Clinical Genetics, Northern General Hospital, Sheffield, S5 7AU, UK., Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, WC1N 3JH, UK., Ladda RL; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA., Sell S; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA., Begtrup A; GeneDx, Gaithersburg, Maryland, 20877, USA., Lynch SA; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland., McCann E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., Østern R; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, 7030, Trondheim, Norway., Pottinger C; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK., Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK., Fry AE; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. fryae@cardiff.ac.uk.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. fryae@cardiff.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Dec; Vol. 31 (12), pp. 1421-1429. Date of Electronic Publication: 2023 Sep 14.
Autor:
Rossi A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy., Blok LS; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Faivre LO; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.; Genetics of Developmental Disorders Team, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD, Dijon, France., Weigand H; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Alfieri P; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Coulter D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Smith L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Vinorum K; Rikshospitalet, Oslo University Hospital, Oslo, Norway., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy.; Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy., Torun D; Department of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey., Arslan M; Department of Pediatric Neurology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey., Lauridsen MF; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark., Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Irving R; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Lynch SA; Children's Health Ireland at Crumlin, Dublin 12, Ireland., Mehta SG; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Carmichael J; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., de Vries B; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Westphall IT; Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark., Hughes SS; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA., Smithson S; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Evans J; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK., Dudding-Byth T; NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia., Simon M; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van Binsbergen E; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Beunders G; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bakal M; Clinic of Radiology, University of Health Sciences Turkey, Haseki Training and Research Hospital, Istanbul, Turkey., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Institute of Clinical Medicine, Copenhagen University, Copenhagen, Denmark., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 186-197. Date of Electronic Publication: 2023 May 10.
Autor:
Bestetti I; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy., Crippa M; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy., Sironi A; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy., Tumiatti F; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Masciadri M; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9019 Tromsø, Norway., Naik S; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff CF14 4XW, UK., Bonati MT; Clinic of Medical Genetics, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Spano A; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy., Cattaneo E; Clinical Genetics Unit, Department of Obstetrics and Gynecology, 'V. Buzzi' Children's Hospital, University of Milan, 20142 Milan, Italy., Mariani M; Pediatric Unit, ASST Lariana, 22100 Como, Italy., Gotta F; Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy., Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Cavalli P; Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy., Pantaleoni C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20142 Milan, Italy., Natacci F; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy., Milani D; Pediatric Highly Intensive Care, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy., Maitz S; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy.; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, 6900 Lugano, Switzerland., Selicorni A; Pediatric Unit, ASST Lariana, 22100 Como, Italy., Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, 'V. Buzzi' Children's Hospital, University of Milan, 20142 Milan, Italy., Peron A; Child Neuropsychiatry Unit-Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, 20142 Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy.; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Russo S; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Larizza L; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Low K; University Hospitals Bristol NHS Trust, University of Bristol, Bristol BS1 3NU, UK., Finelli P; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 May 25; Vol. 23 (11). Date of Electronic Publication: 2022 May 25.
Autor:
Murch O; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. oliver.murch@wales.nhs.uk., Jain V; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Benneche A; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Metcalfe K; Manchester Centre for Genomics Medicine, St. Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK., Hobson E; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Chandler K; Manchester Centre for Genomics Medicine, St. Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK., Ghali N; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, UK., Carmichael J; Oxford Regional Clinical Genetics Service, Northampton General Hospital, Northampton, UK., Foulds NC; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Paulsen J; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway., Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 95-100. Date of Electronic Publication: 2021 Oct 14.
Autor:
Kansu B; School of Medicine, UHW Main Building, Cardiff, UK.; All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Gardner J; All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Price-Tate R; All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Murch O; All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Murray A; All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Publikováno v:
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology [J Obstet Gynaecol] 2021 Aug; Vol. 41 (6), pp. 962-965. Date of Electronic Publication: 2020 Nov 23.
Autor:
Murch O; All Wales Medical Genomics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK., Jain V; All Wales Medical Genomics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK., Offiah AC; Paediatric Musculoskeletal Imaging, Academic Unit of Child Health, University of Sheffield and Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH UK.
Publikováno v:
Radiology case reports [Radiol Case Rep] 2021 Jun 14; Vol. 16 (8), pp. 2240-2243. Date of Electronic Publication: 2021 Jun 14 (Print Publication: 2021).
Autor:
Shahid, Aqsa1 (AUTHOR) shaaq042@student.otago.ac.nz, Bhatia, Madhav1 (AUTHOR) madhav.bhatia@otago.ac.nz
Publikováno v:
Biomolecules (2218-273X). Sep2024, Vol. 14 Issue 9, p1145. 27p.
Autor:
Liu, Linxiang1 (AUTHOR), Huang, Chenkai1 (AUTHOR), Nie, Yuan1 (AUTHOR), Zhang, Yue1 (AUTHOR), Zhou, Juanjuan1 (AUTHOR) zjj15870027993@163.com, Zhu, Xuan1 (AUTHOR) ndyfy00326@ncu.edu.cn
Publikováno v:
BMC Infectious Diseases. 8/29/2024, Vol. 24 Issue 1, p1-11. 11p.
Autor:
Liu, Tian1 (AUTHOR), Wang, Liting1 (AUTHOR), Ji, Li1 (AUTHOR) liutian_bucm@163.com, Mu, Leixin1 (AUTHOR), Wang, Kaihe1 (AUTHOR), Xu, Guang1 (AUTHOR), Wang, Shifeng1 (AUTHOR) wangshifeng@bucm.edu.cn, Ma, Qun1 (AUTHOR) wangshifeng@bucm.edu.cn
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8548. 26p.