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NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan, Ayaz; Tian, Shixiong; Tariq, Muhammad; Khan, Sheraz; Safeer, Muhammad; Ullah, Naimat; Akbar, Nazia; Javed, Iram; Asif, Mahnoor; Ahmad, Ilyas; Ullah, Shahid; Satti, Humayoon Shafique; Khan, Raees; Naeem, Muhammad; Ali, Mahwish; Rendu, John; Fauré, Julien; Dieterich, Klaus; Latypova, Xenia; Baig, Shahid Mahmood; Malik, Naveed Altaf; Zhang, Feng; Khan, Tahir Naeem; Liu, Chunyu.
Afiliação
  • Khan A; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Tian S; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.
  • Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Khan S; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Safeer M; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan.
  • Ullah N; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Akbar N; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan.
  • Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan.
  • Asif M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Ahmad I; Institute for Cardiogenetics, University of Lübeck, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, University Heart Center Lübeck, Lübeck, Germany.
  • Ullah S; Department of General Surgery, Hayatabad Medical Complex, Peshawar, 2500, Pakistan.
  • Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Khan R; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Naeem M; NUMS Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Ali M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Rendu J; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Fauré J; NUMS Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Dieterich K; Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, University of Grenoble Alpes, 38000, Grenoble, France.
  • Latypova X; Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, University of Grenoble Alpes, 38000, Grenoble, France.
  • Baig SM; Inserm, U1209, CHU Grenoble Alpes, Institute of Advanced Biosciences, University of Grenoble Alpes, 38000, Grenoble, France.
  • Malik NA; Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, University of Grenoble Alpes, 38000, Grenoble, France.
  • Zhang F; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Khan TN; Pakistan Science Foundation, Constitution Avenue, Islamabad, Pakistan.
  • Liu C; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
Mol Genet Genomics ; 297(6): 1601-1613, 2022 Nov.
Article em En | MEDLINE | ID: mdl-36002593
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Paquistão
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Paquistão