المؤلفون: Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)

مصطلحات موضوعية: autosomal recessive, CABP2, hearing impairment, Genetics, QH426-470, edu, demo

العلاقة: https://doi.org/10.1002/mgg3.1866Test

الإتاحة: https://doi.org/10.1002/mgg3.1866Test

المؤلفون: Yiming Zheng, Chengyue Sun, Yilin Liu, Siwen Zhang, Meng Yu, Zhiying Xie, Yun Yuan, Gao Wang, Lingchao Meng, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Anushree Acharya, Diana M Cornejo-Sanchez, Zhaoxia Wang

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2041-2046 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Neurosciences. Biological psychiatry. Neuropsychiatry, Computational biology, Brief Communication, Genome, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, RNA, Messenger, RC346-429, Genetic testing, Whole genome sequencing, medicine.diagnostic_test, biology, Whole Genome Sequencing, business.industry, Genome, Human, General Neuroscience, Muscular Dystrophy, Duchenne, 030104 developmental biology, Dmd gene, Mutation, biology.protein, Neurology. Diseases of the nervous system, Neurology (clinical), business, Genetic diagnosis, Brief Communications, 030217 neurology & neurosurgery, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bde88ac4e8c3974ead51760ea0f63fTest
http://europepmc.org/articles/PMC7545597Test

المؤلفون: Liz M Nouel-Saied, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä, Magda Kamila Kadlubowska, Isabelle Schrauwen, Auli Siren, Anushree Acharya, Suzanne M. Leal

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Tampere University, Kanta-Häme Central Hospital Hämeenlinna

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Disease, QH426-470, 030105 genetics & heredity, Neurodevelopmental disorder, Gene duplication, Intellectual disability, Chromosome Duplication, Medicine, Genetics (clinical), Exome sequencing, Oligonucleotide Array Sequence Analysis, X-chromosome, Comparative Genomic Hybridization, Clinical Report, DEVELOPMENTAL DELAY, Chromosomal fragile site, neurodevelopmental disorders, Exons, Pedigree, Phenotype, Female, Adult, medicine.medical_specialty, GENES, Adolescent, DNA Copy Number Variations, Clinical Reports, Structural variation, 03 medical and health sciences, Young Adult, Intellectual Disability, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, AUTISM, Molecular Biology, Alleles, Genetic Association Studies, X‐chromosome, Chromosomes, Human, X, MUTATIONS, business.industry, microduplication, medicine.disease, DUPLICATION, DELETIONS, 030104 developmental biology, Autism, 3111 Biomedicine, business, MENTAL-RETARDATION

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1033800b63a679ae56ad954114a002Test
http://europepmc.org/articles/PMC8683627Test