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المؤلفون: Huifang Tao, Aniko Sabo, Matthew N. Bainbridge, Christian P. Schaaf, Abdallah Amawi, Jiani Yin, Rituraj Pal, Chun-An Chen, Huda Y. Zoghbi, Richard A. Gibbs
المصدر: Hum Mol Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, Autism Spectrum Disorder, Nonsense mutation, Motor Activity, Biology, Compound heterozygosity, Mice, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Animals, Humans, Child, Molecular Biology, Genetics (clinical), Loss function, Exome sequencing, Mice, Knockout, Memory Disorders, Serine Endopeptidases, Membrane Proteins, General Medicine, medicine.disease, Anxiety Disorders, General Article One, Phenotype, 030104 developmental biology, Codon, Nonsense, Autism spectrum disorder, Child, Preschool, Autism, Female, Developmental regression, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb92f2c091a000abcb88fb63b870c55
https://doi.org/10.1093/hmg/ddz305 -
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المؤلفون: Parisa Lotfi, Laura Segatori, Carolyn J. Adamski, Jaiprakash Sharma, Alessandro Simonati, Filippo M. Santorelli, Richard N. Sifers, Maria Chiara Meschini, Marco Sardiello, Lakshya Bajaj, Lauren Popp, Hon Chiu Eastwood Leung, Deepthi Sanagasetti, Kevin T. Chang, John R. Collette, Alberto di Ronza, Michela Palmieri, Abdallah Amawi
المصدر: Nature cell biology
مصطلحات موضوعية: 0301 basic medicine, Male, Batten disease, Golgi Apparatus, Endoplasmic Reticulum, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Lysosome, medicine, Animals, Humans, COPII, Mice, Knockout, Chemistry, lysosomes, protein transport, neuronal ceroid-lipofuscinosis, Endoplasmic reticulum, Membrane Proteins, Cell Biology, COPI, Golgi apparatus, medicine.disease, Endoplasmic Reticulum Stress, Cell biology, Transport protein, Mice, Inbred C57BL, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Mutation, symbols, Organelle biogenesis, Lysosomes, 030217 neurology & neurosurgery, HeLa Cells, Protein Binding