Zobrazeno 1 - 10
of 17 711
pro vyhledávání: '"albinism"'
Autor:
Michaud V; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Sequeira A; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France., Mercier E; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, University of Paris, Imagine Institute, AP-HP5, Necker-Enfants Malades Hospital, Paris, France., Whalen S; Clinical Genetics, Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, APHP, Sorbonne University, Hospital Armand Trousseau, Paris, France., Bonneau D; Department of Genetics, University Hospital Angers, Angers, France., Dieux-Coeslier A; Clinical Genetics Department, Reference Center for Developmental Anomalies, CHU Lille, Lille, France., Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, Rouen, France., Arveiler B; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Javerzat S; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.
Publikováno v:
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Sep; Vol. 37 (5), pp. 534-545. Date of Electronic Publication: 2023 Aug 31.
Autor:
Diallo M; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France., Courdier C; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Mercier E; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France., Sequeira A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France., Defay-Stinat A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France., Plaisant C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Mesdaghi S; Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 7ZB, UK.; Computational Biology Facility, MerseyBio, University of Liverpool, Crown Street, Liverpool L69 7ZB, UK., Rigden D; Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 7ZB, UK., Javerzat S; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France., Lasseaux E; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Bourgeade L; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Audebert-Bellanger S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Brest, 29200 Brest, France., Dollfus H; Service de Génétique Médicale, Centre Hospitalier Universitaire de Strasbourg, 67091 Strasbourg, France., Hadj-Rabia S; Service de Dermatologie, Hôpital Necker-Enfants Malades, 75015 Paris, France., Morice-Picard F; Service de Dermatologie, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Philibert M; Hôpital Fondation Rothschild, 75019 Paris, France., Sidibé MK; Infirmerie Hôpital Militaire, Bamako BP 236, Mali., Smirnov V; Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Centre Hospitalier Universitaire de Lille, 59037 Lille, France., Sylla O; Infirmerie Hôpital Militaire, Bamako BP 236, Mali., Michaud V; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Arveiler B; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Aug 08; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 08.
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:
Kameda E; Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan.; Division of Dermatology, Funabashi Municipal Medical Center, Chiba, Japan., Matsuzawa T; Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan., Togawa Y; Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan., Hashimoto R; Department of Pathology, Chiba University Hospital, Chiba, Japan., Saito T; Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan., Suzuki T; Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan., Inozume T; Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Publikováno v:
The Journal of dermatology [J Dermatol] 2024 Aug; Vol. 51 (8), pp. e261-e263. Date of Electronic Publication: 2024 Feb 27.
Autor:
Chotard V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Trapani F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Glaziou G; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Sermet BS; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Yger P; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Marre O; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Rebsam A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Publikováno v:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Aug 01; Vol. 65 (10), pp. 39.
Autor:
Msipa D; Centre for Human Rights, University of Pretoria, Hatfield 0002, South Africa. Electronic address: dianah.msipa@up.ac.za., Massah BT; Standing Voice and Malawi Human Rights Commission, Lilongwe, Malawi., Van Hout MC; South East Technological University, Waterford, Ireland.
Publikováno v:
The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2024 Oct; Vol. 8 (10), pp. 711-713. Date of Electronic Publication: 2024 Jun 12.
Autor:
Morgan J
Publikováno v:
The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2024 Oct; Vol. 8 (10), pp. 718. Date of Electronic Publication: 2024 Jun 12.
Autor:
Green DJ; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Michaud V; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Fitzgerald T; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK., Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Arveiler B; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 30; Vol. 15 (1), pp. 8436. Date of Electronic Publication: 2024 Sep 30.
Autor:
Wang X; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China., Liu K; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China., Meng Y; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China., Chen J; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China. Electronic address: chenjianjun@tongji.edu.cn., Zhong Z; Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China; Institute of Medical Genetics, Department of Child, Adolescent and Maternal Health, School of Public Health and General Medicine, School of Medicine, Tongji University, Shanghai 200092, China. Electronic address: zhong_emily@sina.com.
Publikováno v:
Gene [Gene] 2025 Jan 10; Vol. 932, pp. 148907. Date of Electronic Publication: 2024 Aug 30.
Autor:
Fu D; Hubei Engineering Technology Research Center of Spectrum and Imaging Instrument, Electronic Information School, Wuhan University, Wuhan, 430072, PR China., Zhang B; College of Chemistry and Material Science, Shandong Agricultural University, Taian, Shandong, 271018, PR China; Department of Chemistry, Texas A&M University, College Station, TX, 77843, United States., Zhang S; Hubei Engineering Technology Research Center of Spectrum and Imaging Instrument, Electronic Information School, Wuhan University, Wuhan, 430072, PR China., Dong Y; Hubei Engineering Technology Research Center of Spectrum and Imaging Instrument, Electronic Information School, Wuhan University, Wuhan, 430072, PR China., Deng J; Hubei Engineering Technology Research Center of Spectrum and Imaging Instrument, Electronic Information School, Wuhan University, Wuhan, 430072, PR China., Shui H; Department of Nephrology, Zhongnan Hospital of Wuhan University, Wuhan University, Wuhan, 430072, PR China., Liu X; Hubei Engineering Technology Research Center of Spectrum and Imaging Instrument, Electronic Information School, Wuhan University, Wuhan, 430072, PR China. Electronic address: liuxh@whu.edu.cn.
Publikováno v:
Biosensors & bioelectronics [Biosens Bioelectron] 2024 Nov 15; Vol. 264, pp. 116645. Date of Electronic Publication: 2024 Aug 13.