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المؤلفون: Salah Basheer, Akhilesh Pandey, Satish Chandra Girimaji, Deepshikha Chandel, Somasekar Seshagiri, Babylakshmi Muthusamy, Srimonta Gayen, Lakshmi Dhevi N. Selvan, Thong T. Nguyen, Aravind K. Bandari, Jesna Manoj
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Ubiquitin-Protein Ligases, Trigonocephaly, 030105 genetics & heredity, Gene mutation, Biology, Article, Craniofacial Abnormalities, 03 medical and health sciences, Hypotelorism, Intellectual Disability, Exome Sequencing, Genetics, medicine, Humans, Protein Isoforms, splice, Abnormalities, Multiple, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Molecular Reproduction, Development & Genetics, Comparative Genomic Hybridization, Tumor Suppressor Proteins, Cytogenetics, General Medicine, Cranial Sutures, medicine.disease, 030104 developmental biology, Child, Preschool, Say–Meyer syndrome, Female, RNA Splice Sites, Comparative genomic hybridization
وصف الملف: application/pdf
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المؤلفون: K. S. S. Reddy, Sakthivel Murugan, Satish Chandra Girimaji, Weiru Wang, Thong T. Nguyen, Bijay S. Jaiswal, Babylakshmi Muthusamy, Vedam Laxmi Ramprasad, Lakshmi Dhevi N. Selvan, T. S. Keshava Prasad, Somasekar Seshagiri, Remya Raja, Harsha Gowda, Akhilesh Pandey, Jayarama S. Kadandale, Andrew S. Peterson, Ravi Gupta, Eric Stawiski, Jesna Manoj
المصدر: Omics : a journal of integrative biology. 21(5)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, X-linked intellectual disability, Methyl-CpG-Binding Protein 2, Genetic counseling, India, Context (language use), Biology, Biochemistry, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Genes, X-Linked, Intellectual Disability, Intellectual disability, Exome Sequencing, Genetics, medicine, Global health, Humans, Exome, Child, Molecular Biology, Genetic Association Studies, Research Articles, business.industry, Genetic disorder, High-Throughput Nucleotide Sequencing, Genetic Diseases, X-Linked, DNA, medicine.disease, Pedigree, 030104 developmental biology, Phenotype, p21-Activated Kinases, Child, Preschool, Mutation, Microcephaly, Molecular Medicine, Female, Personalized medicine, business, Guanylate Kinases, 030217 neurology & neurosurgery, Biotechnology