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1دورية أكاديمية
المؤلفون: Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Albalwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha M. Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Péter Bauer
مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Rearrangements and Copy Number Variations, Genetic and Molecular Studies of Connective Tissue Disorders, Exome Sequencing, Phenotype Analysis, Exome sequencing, Exome, Candidate gene, Disease, Intellectual disability, Gene, Medicine, Phenotype, Bioinformatics, FOS Computer and information sciences, Biology, Pathology
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المؤلفون: Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen
المصدر: Genetics in Medicine
مصطلحات موضوعية: Candidate gene, Base Sequence, medicine.diagnostic_test, Nerve Tissue Proteins, Disease, Computational biology, Biology, medicine.disease, Article, DNA sequencing, Phenotype, Intellectual Disability, Exome Sequencing, Intellectual disability, Human Phenotype Ontology, medicine, Humans, Exome, Gene, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485Test
https://doi.org/10.1038/s41436-021-01159-0Test -
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المؤلفون: Eva Hebert, Ikuo Masuho, Dusanka Savic-Pavicevic, Irina Hüning, Nickolas K. Skamangas, Sofia Steinrücke, Katja Lohmann, Daniel Trujillano, Valerija Dobricic, Ana Westenberger, Alexander Münchau, Gabriele Gillessen-Kaesbach, Christine Klein, Hauke Baumann, Dipak N. Patil, Kirill A. Martemyanov, Arndt Rolfs, Gabriela-Elena Oprea
المصدر: Human Molecular Genetics. :ddx018
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutant, Mutation, Missense, Biology, Frameshift mutation, 03 medical and health sciences, Heterotrimeric G protein, Genetics, Humans, Missense mutation, Exome, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Neurons, Receptors, Dopamine D1, GTP-Binding Protein beta Subunits, Gene Expression Regulation, Developmental, Infant, Articles, General Medicine, Heterotrimeric GTP-Binding Proteins, 3. Good health, 030104 developmental biology, Child, Preschool, Female, GNB1, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca631f0a69440bce859fefd0f044144Test
https://doi.org/10.1093/hmg/ddx018Test