Zobrazeno 1 - 10
of 7 076
pro vyhledávání: '"dyskeratosis"'
Autor:
Roka K; Division of Pediatric Hematology-Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Full Member of ERN GENTURIS and ERN EuroBloodnet, 8 Levadias Street, Goudi, Athens, 11527, Greece., Solomou E; Department of Internal Medicine, University of Patras Medical School, Rion, 26500, Greece., Kattamis A; Division of Pediatric Hematology-Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Full Member of ERN GENTURIS and ERN EuroBloodnet, 8 Levadias Street, Goudi, Athens, 11527, Greece., Stiakaki E; Department of Pediatric Hematology-Oncology & Autologous Hematopoietic Stem Cell Transplantation Unit, University Hospital of Heraklion & Laboratory of Blood Diseases and Childhood Cancer Biology, School of Medicine, University of Crete, Voutes, Heraklion, Crete, 71500, Greece.
Publikováno v:
Postgraduate medical journal [Postgrad Med J] 2024 Nov 22; Vol. 100 (1190), pp. 879-889.
Autor:
Tummala H; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK. h.tummala@qmul.ac.uk.; Barts Health NHS Trust, London, UK. h.tummala@qmul.ac.uk., Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Badat M; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK., Patel M; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Walne AM; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Alnajar J; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Chow CC; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Albursan I; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Frost JM; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Ballard D; Department of Analytical, Environmental & Forensic Sciences, Kings College London, Franklin-Wilkins Building, Stamford Street, London, SE1 9NH, UK., Killick S; Department of Haematology, Royal Bournemouth Hospital NHS Foundation Trust, Bournemouth, BH7 7DW, UK., Szitányi P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Prague, Czech Republic., Kelly AM; Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Raghavan M; Clinical Haematology, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK., Powell C; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, UK., Raymakers R; University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands., Todd T; Department of Haematology, Royal Devon and Exeter Hospital, Exeter, EX2 5DW, UK., Mantadakis E; Department of Pediatrics' University General Hospital of Alexandroupolis, Democritus University of Thrace Faculty of Medicine, 6th Kilometer Alexandroupolis-Makris, 68 100 Alexandroupolis, Thrace, Greece., Polychronopoulou S; Department of Pediatric Hematology-Oncology, Aghia Sophia Children's Hospital, Athens, Greece., Pontikos N; Institute of Ophthalmology, Faculty of Brain Sciences, University College London, Gower St, London, WC1E 6BT, UK., Liao T; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Madapura P; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Hossain U; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK., Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Dokal I; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 Oct; Vol. 16 (10), pp. 2560-2582. Date of Electronic Publication: 2024 Aug 28.
Autor:
Castro-Díaz M; Institut Clínic d'Oftalmologia (ICOF), Sagrat Cor University Hospital, carrer de Viladomat, 288, 08029 Barcelona, Spain. Electronic address: mcastrodiaz.oft@gmail.com., Solé-Forteza E; Medical and Surgical Retina Department, Ophthalmology Service, Joan XXIII University Hospital, carrer del Dr. Mallafrè Guasch, 4, 43005 Tarragona, Spain., Montoya-Ortega S; Ophthalmology Service, Joan XXIII University Hospital, carrer del Dr. Mallafrè Guasch, 4, 43005 Tarragona, Spain., López-Dupla JM; Internal Medicine Service, Joan XXIII University Hospital, carrer del Dr. Mallafrè Guasch, 4, 43005 Tarragona, Spain.
Publikováno v:
Journal francais d'ophtalmologie [J Fr Ophtalmol] 2024 Oct; Vol. 47 (8), pp. 104249. Date of Electronic Publication: 2024 Jul 26.
Autor:
Dimitrov M; Division of Pediatric Hematology/Oncology, University of Minnesota, Minneapolis, Minnesota., Merkle S; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Cao Q; Biostatistics Core, Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota., Tryon RK; Department of Genetics, University of Minnesota, Minneapolis, Minnesota., Vercellotti GM; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, Minnesota., Holtan SG; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, Minnesota., Kao RL; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, Minnesota., Srikanthan M; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Terezakis SA; Department of Radiation Oncology, University of Minnesota, Minneapolis, Minnesota., Tolar J; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Ebens CL; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota. Electronic address: ebens012@umn.edu.
Publikováno v:
Transplantation and cellular therapy [Transplant Cell Ther] 2024 Oct; Vol. 30 (10), pp. 1005.e1-1005.e17. Date of Electronic Publication: 2024 Jul 11.
Autor:
Neri Morales C; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia. conny2207@gmail.com., Cuestas D; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia.; Estudioderma - Dermatologic Investigation Center - Medical Research Area, Bogotá, Colombia.; Dermatology Program, Universidad El Bosque, Bogotá, Colombia., Ángel F; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Ilelaty Urbano FA; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Rodríguez PA; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Brito JA; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Téllez D; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia., Fernández I; Department of Medical Genetics Unit, Policlínico Metropolitano, Caracas, Venezuela., Celis Regalado L; Department of Biosciences, Universidad de La Sabana, Campus Puente Común, Km. 7, Autopista Norte de Bogotá, Chía, Colombia.
Publikováno v:
Archives of dermatological research [Arch Dermatol Res] 2024 Jun 28; Vol. 316 (7), pp. 438. Date of Electronic Publication: 2024 Jun 28.
Autor:
Fernández-Varas B; Instituto de Investigaciones Biomedicas Sols/Morreale CSIC/UAM, Arturo Duperier 4, 28029 Madrid, Spain., Manguan-García C; Instituto de Investigaciones Biomedicas Sols/Morreale CSIC/UAM, Arturo Duperier 4, 28029 Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III. C. Melchor Fernandez de Almagro, 3, 28029 Madrid, Spain., Rodriguez-Centeno J; Instituto de Investigaciones Biomedicas Sols/Morreale CSIC/UAM, Arturo Duperier 4, 28029 Madrid, Spain., Mendoza-Lupiáñez L; Instituto de Investigaciones Biomedicas Sols/Morreale CSIC/UAM, Arturo Duperier 4, 28029 Madrid, Spain., Calatayud J; Departamento de Biología y Geología, Física y Química inorgánica. ESCET, Universidad Rey Juan Carlos, C/Tulipán s/n, Móstoles, C.P. 28933 Madrid, Spain., Perona R; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III. C. Melchor Fernandez de Almagro, 3, 28029 Madrid, Spain.; Instituto de Salud Carlos III. Calle Monforte de Lemos 5, 28029 Madrid, Spain., Martín-Martínez M; Instituto de Química Médica CSIC, Juan de la Cierva 3, 28006 Madrid, Spain., Gutierrez-Rodriguez M; Instituto de Química Médica CSIC, Juan de la Cierva 3, 28006 Madrid, Spain., Benítez-Buelga C; Instituto de Investigaciones Biomedicas Sols/Morreale CSIC/UAM, Arturo Duperier 4, 28029 Madrid, Spain., Sastre L; Instituto de Investigaciones Biomedicas Sols/Morreale CSIC/UAM, Arturo Duperier 4, 28029 Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III. C. Melchor Fernandez de Almagro, 3, 28029 Madrid, Spain.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Apr 18; Vol. 33 (9), pp. 818-834.
Autor:
Güllülü Ö; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Mayer BE; Computational Biology & Simulation, Technische Universität Darmstadt, 64287 Darmstadt, Germany., Toplek FB; Dipartimento di Bioscienze, Università degli Studi di Milano, 20133 Milano, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 28; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 28.
Autor:
Qin J; Department of Anatomy and Cell Biology, McGill University, 3640 University Street, Montreal, Quebec, QC H3A 0C7, Canada.; Lady Davis Institute, Jewish General Hospital, 3755 Chem, de la Côte-Sainte-Catherine, Montréal, QC H3T 1E2, Canada., Garus A; Department of Anatomy and Cell Biology, McGill University, 3640 University Street, Montreal, Quebec, QC H3A 0C7, Canada.; Lady Davis Institute, Jewish General Hospital, 3755 Chem, de la Côte-Sainte-Catherine, Montréal, QC H3T 1E2, Canada., Autexier C; Department of Anatomy and Cell Biology, McGill University, 3640 University Street, Montreal, Quebec, QC H3A 0C7, Canada.; Lady Davis Institute, Jewish General Hospital, 3755 Chem, de la Côte-Sainte-Catherine, Montréal, QC H3T 1E2, Canada.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Feb 01; Vol. 33 (4), pp. 318-332.
Autor:
Pearce E; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, United States., Raj H; Team Telomere, Coeur d'Alene, ID, United States., Emezienna N; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, United States., Gilkey MB; Department of Health Behavior, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Lazard AJ; Hussman School of Journalism and Media, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Ribisl KM; Department of Health Behavior, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Savage SA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, United States., Han PK; Division of Cancer Control and Population Sciences, Behavioral Research Program, National Cancer Institute, National Institutes of Health, Rockville, MD, United States.
Publikováno v:
JMIR infodemiology [JMIR Infodemiology] 2024 Jan 15; Vol. 4, pp. e46693. Date of Electronic Publication: 2024 Jan 15.
Autor:
Pramanik-Jonsson L; Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet.; Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital., Borssén M; Department of Medical Biosciences, Umeå University.; Section of Pediatric Hematology and Oncology, Child and Adolescent Medical Center, University Hospital of Umeå, Umeå, Sweden., Vonlanthen S; Department of Clinical Immunology and Transfusion Medicine, Medical Diagnostics Center, Karolinska University Hospital, Stockholm., Nilsson F; Department of Medical Biosciences, Umeå University.; Section of Pediatric Hematology and Oncology, Child and Adolescent Medical Center, University Hospital of Umeå, Umeå, Sweden., Sundin M; Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet.; Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital.
Publikováno v:
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2024 Jan 01; Vol. 46 (1), pp. 57-62. Date of Electronic Publication: 2023 Oct 27.