Zobrazeno 1 - 10
of 623
pro vyhledávání: '"Ur Rahman Z"'
Autor:
Ayuob A; Worcestershire Acute Hospitals NHS Trust, Worcester, United Kingdom. Electronic address: atifayuob@gmail.com., Ur-Rahman Z; Worcestershire Acute Hospitals NHS Trust, Worcester, United Kingdom., Jordan RW; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom., D'Alessandro P; Orthopaedic Research Foundation of Western Australia, Perth, Australia; Medical School, University of Western Australia, Perth, Australia., MacLean S; Tauranga Hospital, BOPDHB, Tauranga, New Zealand., Malik SS; Worcestershire Acute Hospitals NHS Trust, Worcester, United Kingdom.
Publikováno v:
Orthopaedics & traumatology, surgery & research : OTSR [Orthop Traumatol Surg Res] 2024 May; Vol. 110 (3), pp. 103750. Date of Electronic Publication: 2023 Nov 08.
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Autor:
De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularl
Autor:
Shah H; Department of Biotechnology, CECOS University of IT and Emerging Sciences, Peshawar, Pakistan., Ur Rahman Z; Department of Healthcare Biotechnology, Center of excellence in Molecular Biology, Punjab University Lahore, Pakistan., Khan M; Department of Healthcare Biotechnology, National University of Science and Technology, Peshawar, Pakistan., Zaman F; Frontier Foundation, University of Agriculture, Peshawar, Pakistan., Badshah S; Frontier Foundation, University of Agriculture, Peshawar, Pakistan.
Publikováno v:
Recent advances in anti-infective drug discovery [Recent Adv Antiinfect Drug Discov] 2023; Vol. 18 (3), pp. 215-220.
Akademický článek
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Autor:
De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Sarre A; Cardiovascular Assessment Facility, University of Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Putoux A; Service de Génétique, Hopital Femme Mere Enfant, Bron, France., Sultan T; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Raza Alvi J; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Ur Rahman Z; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA., Murphy D; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of)., Shariati G; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran (the Islamic Republic of)., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of)., Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran (the Islamic Republic of)., Lesca G; Service de Genetique, Hospices Civils de Lyon, Lyon, France., Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Service de Genetique, Hospices Civils de Lyon, Lyon, France., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Christoforou M; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Simonds WF; Metabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, MD, USA., Pedrazzini T; Experimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne, Lausanne, Switzerland., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland alexandre.reymond@unil.ch.
Publikováno v:
Journal of medical genetics [J Med Genet] 2021 Dec; Vol. 58 (12), pp. 815-831. Date of Electronic Publication: 2020 Nov 10.
Akademický článek
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