検索結果 - Asif Mir
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The genetics of intellectual disability: advancing technology and gene editing 著者: Muhammad Ilyas, Asif Mir, Stéphanie Efthymiou, Henry Houlden
出版事項 2020Pré-impressão -
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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation 著者: Asif Mir, Liana Kaufman, Abdul Noor, M. Mahdi Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuß, Gisele E. Ishak, Dan Doherty, Hans‐Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent
出版事項 2009Artigo -
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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability 著者: Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, A. Hussain, Asif Mir, Omar Islam, Katta M. Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C. Sladky, Vincent Z. Braun, Irmina García-Carpio, Andreas Villunger, John B. Vincent
出版事項 2021Artigo -
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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families 著者: Ricardo Harripaul, Nasim Vasli, А. О. Михайлов, Muhammad Rafiq, Kirti Mittal, Christian Windpassinger, Taimoor I. Sheikh, Abdul Noor, Hina Mahmood, Samantha I Downey, Maneesha Johnson, Kayla Vleuten, Lauren Bell, Muhammad Ilyas, Falak Sher Khan, Valeed Khan, Mohammad Moradi, M. Ayaz, Farooq Naeem, Asieh Heidari, Iqra I. Ahmed, Shirin Ghadami, Zehra Agha, Sirous Zeinali, Raheel Qamar, Hossein Mozhdehipanah, Peter John, Asif Mir, Muhammad Ansar, Leon French, Muhammad Ayub, John B. Vincent
出版事項 2017Artigo
関連主題
Biology
Gene
Genetics
Computational biology
Medicine
Candidate gene
Disease gene identification
Docking (animal)
Exome sequencing
Exon
Genome
Missense mutation
Mutation
Nursing
Phenotype
Apoptosis
AutoDock
Biochemistry
Bioinformatics
CRISPR
Cas9
Cell biology
Cell cycle
Consanguinity
Copy-number variation
Cyclin D1
D-amino acid oxidase
DNA sequencing
Death domain
Disease