Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Douglas AGL"'
Autor:
Nicola Whiffin, William G. Newman, Jamie M Ellingford, Gillian I. Rice, Charlie Rowlands, H N Hall, Douglas Agl., Black Gcm., Tracy A Briggs, Algy Taylor, Raymond T. O'Keefe, Simon J. Hubbard, Diana Baralle
BackgroundRNA-sequencing of patient biosamples is a promising approach to delineate the impact of genomic variants on splicing, but variable gene expression between tissues complicates selection of appropriate tissues. Relative expression level is of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02c16066800d24873124b07be26aeac9
https://doi.org/10.1101/2021.03.19.21253973
https://doi.org/10.1101/2021.03.19.21253973
Autor:
Dafinca, R, Scaber, J, Ababneh, N, Lalic, T, Weir, G, Christian, H, Vowles, J, Douglas, AGL, Fletcher-Jones, A, Browne, C, Nakanishi, M, Turner, MR, Wade-Martins, R, Cowley, SA, Talbot, K
An expanded hexanucleotide repeat in a noncoding region of the C9orf72 gene is a major cause of amyotrophic lateral sclerosis (ALS), accounting for up to 40andpercnt; of familial cases and 7andpercnt; of sporadic ALS in European populations. We have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d416e5b68c0fbd02aa724deb92296115
https://eprints.soton.ac.uk/393755/
https://eprints.soton.ac.uk/393755/
Autor:
Douglas AGL; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Thompson AG; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Publikováno v:
BMJ neurology open [BMJ Neurol Open] 2024 Sep 18; Vol. 6 (2), pp. e000792. Date of Electronic Publication: 2024 Sep 18 (Print Publication: 2024).
Autor:
Jaramillo Oquendo C; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Wai HA; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Rich WI; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Bunyan DJ; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury, UK., Thomas NS; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury, UK., Hunt D; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Lord J; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Douglas AGL; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Baralle D; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK. d.baralle@soton.ac.uk.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.
Publikováno v:
Genome medicine [Genome Med] 2024 Sep 09; Vol. 16 (1), pp. 110. Date of Electronic Publication: 2024 Sep 09.
Autor:
Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Svobodova E; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Herrera NR; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Douglas AGL; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Holloway JW; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Baralle FE; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Fondazione Fegato, Area Science Park Basovizza, 34149, Trieste, Italy., Baralle M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149, Trieste, Italy., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.
Publikováno v:
Experimental & molecular medicine [Exp Mol Med] 2024 Aug; Vol. 56 (8), pp. 1816-1825. Date of Electronic Publication: 2024 Aug 01.
Autor:
Douglas AGL; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK andrew.douglas@ndcn.ox.ac.uk.; Human Development and Health, University of Southampton Faculty of Medicine, Southampton, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Baralle D; Human Genetic and Genomics, University of Southampton, Southampton, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 294-297. Date of Electronic Publication: 2024 Feb 21.
Autor:
Lord J; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Oquendo CJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Douglas AGL; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bunyan DJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK., Wang Y; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China., Hu Z; University of California, Berkeley, Berkeley, CA, 94720, USA., Zeng Z; Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, NJ, 08873, USA., Danis D; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Williams A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Chang Y; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Bagnall RD; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Mount SM; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA., Matthiasardottir B; Graduate Program in Biological Sciences and Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA., Lin C; DNAnexus, Mountain View, CA, 94040, USA., Hansen TVO; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Leman R; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France., Martins A; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France., Houdayer C; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France.; Department of Genetics, Univ Rouen Normandie, INSERM U1245, FHU-G4 Génomique and CHU Rouen, 76000, Rouen, France., Krieger S; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France., Bakolitsa C; University of California, Berkeley, Berkeley, CA, 94720, USA., Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA., Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.
Publikováno v:
Human genetics [Hum Genet] 2024 Jan 03. Date of Electronic Publication: 2024 Jan 03.
Autor:
Mattison KA; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.; Department of Human Genetics, Emory University, Atlanta, GA, USA., Tossing G; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Mulroe F; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Simmons C; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Butler KM; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Greenwood Genetics Center, Greenwood, SC, USA., Schreiber A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Alsadah A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Neilson DE; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Wedell A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Wredenberg A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Burghel GJ; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Menendez B; UI Health, Chicago, IL, USA., Hoganson GE; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Aledo-Serrano Á; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Gil-Nagel A; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Tatton-Brown K; Medical Genetics, St. George's University Hospitals NHS Foundation Trust and Institute for Molecular and Cell Sciences, St. George's, University of London, London, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., Aleck KA; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Fazenbaker AC; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Balciuniene J; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; PerkinElmer Genomics, Pittsburgh, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Garber K; Department of Human Genetics, Emory University, Atlanta, GA, USA., Ek J; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Duno M; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Hoei-Hansen CE; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Quindipan C; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., van Hirtum-Das M; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Insititue for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Whitney A; Pediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Douglas AGL; Wessex Clinical Genetics Service, University of Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Kharbanda M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Tao JX; Department of Neurology, University of Chicago, Chicago, IL, USA., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Baines RA; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Warwicker J; School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Institute of Biotechnology, University of Manchester, Manchester, UK., Parker JA; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Banka S; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Escayg A; Department of Human Genetics, Emory University, Atlanta, GA, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1357-1372.
Autor:
Burglen L; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris, France., Van Hoeymissen E; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium., Qebibo L; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France., Barth M; Department of Genetics, University Hospital of Angers, Angers, France., Belnap N; Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States., Boschann F; Charité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., De Clercq K; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium., Douglas AGL; University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Fitzgerald MP; Children's Hospital of Philadelphia, Philadelphia, United States., Foulds N; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Garel C; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, Paris, France., Helbig I; Children's Hospital of Philadelphia, Philadelphia, United States., Held K; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium.; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium., Horn D; Charité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Janssen A; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium., Kaindl AM; Institute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin, Berlin, Germany.; Department of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.; Charité - Universitäts medizin Berlin, Center for Chronically Sick Children, Berlin, Germany., Narayanan V; Translational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States., Prager C; Department of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.; Charité - Universitäts medizin Berlin, Center for Chronically Sick Children, Berlin, Germany., Rupin-Mas M; Department of Neuropediatrics, University Hospital of Angers, Angers, France., Afenjar A; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France., Zhao S; Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey, Newark, United States., Ramaekers VT; Division Neuropediatrics, University Hospital Liège, Liège, Belgium., Ruggiero SM; Children's Hospital of Philadelphia, Philadelphia, United States., Thomas S; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Valence S; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP, Paris, France., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté Besançon, Besancon, France.; Center of Clinical Investigation 1431, National Institute of Health and Medical Research, Besancon, France., Rohacs T; Department of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey, Newark, United States., Rodriguez D; Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.; Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau AP-HP, Paris, France., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Voets T; Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium., Vriens J; Laboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.
Publikováno v:
ELife [Elife] 2023 Jan 17; Vol. 12. Date of Electronic Publication: 2023 Jan 17.
Autor:
Martinez-Falero BS; Department of Dermatology, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK., Koutalopoulou A; Department of Dermatology, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK., Douglas AGL; Wessex Clinical Genetics Service, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK., Kharbanda M; Wessex Clinical Genetics Service, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK., Collinson MN; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Hampshire, UK., Lotery A; Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK., Lotery H; Department of Dermatology, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK.
Publikováno v:
Clinical and experimental dermatology [Clin Exp Dermatol] 2022 Dec; Vol. 47 (12), pp. 2342-2345. Date of Electronic Publication: 2022 Sep 30.