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المؤلفون: Karen Doggett, Almahdi Chakroun, Alisa K. White, Joan K. Heath, Stephen Mieruszynski, Alice Abdel Aleem, Madisen F. Lee, Cinzia Magnani, Anouk M. Olthof, Rahul N. Kanadia, Justine Rousseau, Philippe M. Campeau, Chaim M. Roifman
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Spliceosome, Cerebellar Ataxia, AcademicSubjects/SCI00010, Primary Immunodeficiency Diseases, Biology, Osteochondrodysplasias, 03 medical and health sciences, Exon, Mice, 0302 clinical medicine, Retinal Diseases, Minor spliceosome, Intellectual Disability, RNA, Small Nuclear, Genetics, RNA and RNA-protein complexes, Animals, Humans, Cells, Cultured, Growth Disorders, 030304 developmental biology, 0303 health sciences, Alternative splicing, Intron, RNA, Exons, Exon skipping, Introns, Nonsense Mediated mRNA Decay, Alternative Splicing, Polyribosomes, RNA splicing, Mental Retardation, X-Linked, Microcephaly, Spliceosomes, Apoptosis Regulatory Proteins, Cardiomyopathies, 030217 neurology & neurosurgery, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da10f0161305409ed8ad98589f56d3a
http://europepmc.org/articles/PMC8034651 -
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المؤلفون: Madisen F. Lee, Rahul N. Kanadia, Philippe M. Campeau, Cinzia Magnani, Alisa K. White, Alice Abdel Aleem, Almahdi Chakroun, Anouk M. Olthof, Justine Rousseau
مصطلحات موضوعية: Gene isoform, Spliceosome, medicine.anatomical_structure, Minor spliceosome, Polysome, Alternative splicing, medicine, Intron, Biology, Gene, Radial glial cell, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4365d82e758ba0e4446ef1cc87a2405a
https://doi.org/10.1101/2020.05.18.101246 -
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المؤلفون: Reem Babiker Mohamed, Rana al-Shami, Mahmoud F. Elsaid, Omar Osman, M. Elizabeth Ross, Noora AlMudheki, Khalid Mohamed, Khalid Ibrahim, Nader Chalhoub, Osama Elalamy, Omer F. Kuzu, Alice Abdel Aleem, Almahdi Chakroun
المصدر: Neuromuscular disorders : NMD. 30(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Prevalence, Consanguinity, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Muscular dystrophy, Child, Frameshift Mutation, Qatar, Genetics (clinical), business.industry, Infant, medicine.disease, Phenotype, Founder Effect, Pedigree, Osteopenia, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Congenital muscular dystrophy, Female, Neurology (clinical), Laminin, Nephrocalcinosis, business, 030217 neurology & neurosurgery
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المؤلفون: Jacqueline Giallo, Almahdi Chakroun, Sawsan Amara, Julie Paume, Frédéric Carrière, Laura Sams, Sébastien Coudre
المصدر: Biochimica et biophysica acta. Molecular and cell biology of lipids. 1862(10 Pt)
مصطلحات موضوعية: 0301 basic medicine, Signal peptide, Mutation, Missense, Gene Expression, Pichia, Pichia pastoris, Substrate Specificity, 03 medical and health sciences, Catalytic Domain, Enzyme Stability, Humans, Gastric lipase, Site-directed mutagenesis, Molecular Biology, 030102 biochemistry & molecular biology, biology, Mutagenesis, Active site, Cell Biology, Lipase, biology.organism_classification, Yeast, Recombinant Proteins, 030104 developmental biology, Biochemistry, Amino Acid Substitution, biology.protein, Lipid digestion