نتائج البحث

المصدر: American Journal of Human Genetics, 104(1), 164. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 104(1), 164-178. Cell Press
American Journal of Human Genetics, 104, 1, pp. 164-178
American Journal of Human Genetics, 104, 164-178

مصطلحات موضوعية: Male, 0301 basic medicine, Hypertrichosis, speech delay, Bafopathy, Developmental Disabilities, CACNB4, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Bafopathy, developmental delay, dysmorphisms, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorder, speech delay, transcriptome, Genetics(clinical), Child, Genetics (clinical), Genetics, Syndrome, Hypotonia, DNA-Binding Proteins, developmental delay, Corticogenesis, intellectual disability, Child, Preschool, Speech delay, Female, medicine.symptom, Hand Deformities, Congenital, dysmorphisms, Adolescent, Micrognathism, genotype-phenotype correlation, Biology, Chromatin remodeling, 03 medical and health sciences, Journal Article, medicine, Humans, Abnormalities, Multiple, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], medicine.disease, neurodevelopmental disorder, Reelin Protein, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Face, Mutation, biology.protein, transcriptome, Neck, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18570394165a5f2fabd3e705d39672a5Test
https://doi.org/10.1016/j.ajhg.2018.11.007Test

9

Identification of 3'-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients

المؤلفون: Janaki Chintalapati, M.V. Hosur, Tanusree Chaudhuri

المصدر: PLoS ONE, Vol 16, Iss 6, p e0252475 (2021)
PLoS ONE

مصطلحات موضوعية: Untranslated region, Molecular biology, RNA Stability, RNA-binding proteins, RNA-binding protein, CACNB4, Biochemistry, Physical Chemistry, Medicine and Health Sciences, Missense mutation, RNA structure, 3' Untranslated Regions, Genetics, Multidisciplinary, Symporters, Messenger RNA, Software Engineering, Genomics, Aldehyde Oxidoreductases, Nucleic acids, Excitatory Amino Acid Transporter 1, Chemistry, Neurology, Ribonucleoproteins, Physical Sciences, Engineering and Technology, Medicine, Research Article, Computer and Information Sciences, Science, MiRNA binding, Biology, Polymorphism, Single Nucleotide, Receptors, N-Methyl-D-Aspartate, Human Genomics, Computer Software, microRNA, Humans, Non-coding RNA, Gene, Natural antisense transcripts, Epilepsy, SKP Cullin F-Box Protein Ligases, Biology and life sciences, Chemical Bonding, Proteins, Hydrogen Bonding, Gene regulation, Fibroblast Growth Factors, MicroRNAs, Macromolecular structure analysis, Epilepsy, Temporal Lobe, biology.protein, RNA, GRIN2A, Gene expression, Calcium Channels

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232c14ff499b2c9294d28dd719e2bb36Test
https://doaj.org/article/534ccc3837b8460db2df3d13229d9d9dTest

10

دورية أكاديمية

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

المؤلفون: Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer, Kahler, Anna, Akterin, Susanne, Bergen, Sarah, Collins, Ann, Crowley, James, Brown, Matthew, other, and

المصدر: Nature Genetics

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/89278/1/nihms512111.pdfTest; Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer, Kahler, Anna, Akterin, Susanne, Bergen, Sarah, Collins, Ann, Crowley, James, Brown, Matthew, & other, and (2013) Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genetics, 45(10), pp. 1150-1159.; https://eprints.qut.edu.au/89278Test/; Faculty of Health; Institute of Health and Biomedical Innovation

الإتاحة: https://doi.org/10.1038/ng.2742Test
https://eprints.qut.edu.au/89278Test/

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