Zobrazeno 1 - 10
of 869
pro vyhledávání: '"Hermanski-Pudlak Syndrome"'
Autor:
Hu X; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; Henan Key Laboratory of Inherited Metabolic Diseases, Pediatric Research Institute of Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China., Guo R; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; Henan Key Laboratory of Inherited Metabolic Diseases, Pediatric Research Institute of Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China., Qi Z; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Zhang Y; Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China., Li W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; Henan Key Laboratory of Inherited Metabolic Diseases, Pediatric Research Institute of Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. Electronic address: liwei@bch.com.cn., Hao C; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; Henan Key Laboratory of Inherited Metabolic Diseases, Pediatric Research Institute of Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. Electronic address: hchjhchj@163.com.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119813. Date of Electronic Publication: 2024 Jun 12.
Autor:
Serrano-González J; Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico., Montes-Rodríguez I; Comprehensive Cancer Center, University of Puerto Rico, San Juan, Puerto Rico., Renta JY; Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico., Rojas R; Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico., Cadilla CL; Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2493.
Autor:
Kahani SM; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.; PardisGene CO, Tehran, Iran., Saray AR; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Kahaei MS; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Dehghani A; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Mohammadi P; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.; PardisGene CO, Tehran, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Masoud.garshasbi@modares.ac.ir.
Publikováno v:
BMC genomics [BMC Genomics] 2024 Aug 27; Vol. 25 (1), pp. 805. Date of Electronic Publication: 2024 Aug 27.
Autor:
Khan J; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan.; Faculty of Basic and Applied Sciences, SA-Centre for Interdisciplinary Research in Basic Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Asif S; Department of Biosciences, COMSATS University Islamabad, Islamabad Campus, Islamabad, 45550, Pakistan., Ghani S; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Khan H; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Arshad MW; Department of Psychiatry, Yale University School of Medicine, VA CT Healthcare Center S116A2, West Haven, 06516, USA., Khan SA; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Lin S; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Baple EL; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Salter C; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Crosby AH; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Rawlins L; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Shabbir MI; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan. imran.shabbir@iiu.edu.pk.
Publikováno v:
BMC ophthalmology [BMC Ophthalmol] 2024 Aug 14; Vol. 24 (1), pp. 345. Date of Electronic Publication: 2024 Aug 14.
Autor:
Rodrigues R; Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal., Quental R; Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal., Santos Silva R; Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal., Costa L; Immunohemotherapy Department, Centro Hospitalar Universitário de São João, Porto, Portugal., Estrela-Silva S; Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 262-266. Date of Electronic Publication: 2023 Dec 14.
Publikováno v:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie [Can J Ophthalmol] 2024 Jun; Vol. 59 (3), pp. e267-e268. Date of Electronic Publication: 2024 Feb 29.
Autor:
Webbers SD; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands S.webbers@sanquin.nl.; Department of Pediatric Immunology, Rheumatology & Infectious Diseases, Emma Children's Hospital, AUMC, University of Amsterdam, Amsterdam, Netherlands., Aarts CE; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands., Klein B; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands., Koops D; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands.; Department of Pediatric Immunology, Rheumatology & Infectious Diseases, Emma Children's Hospital, AUMC, University of Amsterdam, Amsterdam, Netherlands., Geissler J; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands., Tool AT; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands., van Bruggen R; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands., van den Akker E; https://ror.org/01fm2fv39 Department of Hematopoiesis, Sanquin Research Amsterdam, Amsterdam, Netherlands., Kuijpers TW; https://ror.org/01fm2fv39 Department of Molecular Hematology, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, Netherlands t.w.kuijpers@amsterdamumc.nl.; Department of Pediatric Immunology, Rheumatology & Infectious Diseases, Emma Children's Hospital, AUMC, University of Amsterdam, Amsterdam, Netherlands.
Publikováno v:
Life science alliance [Life Sci Alliance] 2024 Jan 18; Vol. 7 (4). Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2024).
Autor:
Itoh T; Department of Respirology, Graduate School of Medicine, Chiba University, Japan., Kawasaki T; Department of Respirology, Graduate School of Medicine, Chiba University, Japan. Electronic address: kawatake@chiba-u.jp., Kaiho T; Department of General Thoracic Surgery, Graduate School of Medicine, Chiba University, Japan., Shikano K; Department of Respirology, Graduate School of Medicine, Chiba University, Japan., Naito A; Department of Respirology, Graduate School of Medicine, Chiba University, Japan., Abe M; Department of Respirology, Graduate School of Medicine, Chiba University, Japan., Suzuki H; Department of General Thoracic Surgery, Graduate School of Medicine, Chiba University, Japan., Ota M; Department of Diagnostic Pathology, Graduate School of Medicine, Chiba University, Japan., Yoshino I; Department of General Thoracic Surgery, Graduate School of Medicine, Chiba University, Japan; Department of Thoracic Surgery, International University of Health and Welfare School of Medicine, Chiba, Japan., Suzuki T; Department of Respirology, Graduate School of Medicine, Chiba University, Japan.
Publikováno v:
Respiratory investigation [Respir Investig] 2024 Jan; Vol. 62 (1), pp. 176-178. Date of Electronic Publication: 2023 Dec 27.
Autor:
Zhou B; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China, zhoubiting@126.com.; Department of Ophthalmology, National Regional Medical Center, Binghai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China, zhoubiting@126.com.; Fujian Institute of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China, zhoubiting@126.com.; Fujian Provincial Clinical Medical Research Center of Eye Diseases and Optometry, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China, zhoubiting@126.com., Yang J; Department of Bioengineering and Biopharmaceutics, School of Pharmacy, Fujian Medical University, Fuzhou, China., Bai Y; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.; Department of Ophthalmology, National Regional Medical Center, Binghai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China.; Fujian Institute of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.; Fujian Provincial Clinical Medical Research Center of Eye Diseases and Optometry, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Li Y; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Chen S; Department of Ophthalmology, First People's Hospital of Chenzhou, Chenzhou, China., Chen X; Department of Bioengineering and Biopharmaceutics, School of Pharmacy, Fujian Medical University, Fuzhou, China., Zhang N; Department of Pharmacology, School of Pharmacy, Fujian Medical University, Fuzhou, China., Cao Z; National Research Institute for Family Planning, Beijing, China., Zhu Y; Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.; Department of Ophthalmology, National Regional Medical Center, Binghai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, China.; Fujian Institute of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.; Fujian Provincial Clinical Medical Research Center of Eye Diseases and Optometry, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Xu Y; School of Pharmacy, Fujian Medical University, Fuzhou, China.
Publikováno v:
Ophthalmic research [Ophthalmic Res] 2024; Vol. 67 (1), pp. 62-75. Date of Electronic Publication: 2023 Dec 13.
Autor:
Zamora-Cánovas A; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., de la Morena-Barrio B; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Marín-Quilez A; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Sierra-Aisa C; Servicio de Hematología, Hospital Universitario Cruces, Baracaldo, Bilbao, Spain., Male C; Department of Paediatrics, Medical University of Vienna, Vienna, Austria., Fernández-Mosteirin N; Servicio de Hematología, Hospital Universitario Miguel Servet, Zaragoza, Spain., Trapero-Marugán M; Servicio de Hepatología, Hospital Universitario Puerta de Hierro, Madrid, Spain., Padilla J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Garrido-Rodriguez P; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Sánchez-Fuentes A; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Rodríguez-Alen A; Servicio de Hematología, Hospital Virgen de la Salud, Complejo Hospitalario de Toledo, Toledo, Spain., Gómez-González PL; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Revilla N; Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, Instituto Investigación Sanitaria FJD, Madrid, Spain., de la Morena-Barrio ME; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Bastida JM; Departmento de Hematología, Complejo Asistencial Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca, Universidad de Salamanca, Salamanca, Spain; On behalf of Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC), Spanish Society of Thrombosis and Haemostasis, Madrid, Spain., Corral J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Rivera J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain; On behalf of Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC), Spanish Society of Thrombosis and Haemostasis, Madrid, Spain. Electronic address: Jose.rivera@carm.es., Lozano ML; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain.
Publikováno v:
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2024 Mar; Vol. 22 (3), pp. 851-859. Date of Electronic Publication: 2023 Nov 24.