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المؤلفون: Ilham Ratbi, Youssef El Kadiri, Jaber Lyahyai, Yamna Kriouile, Abdelaziz Sefiani, Fatima Zahra Laarabi
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
BMC Medical Genomicsمصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Nonsense mutation, LAMA2 gene, QH426-470, Muscular Dystrophies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Case report, Genetics, medicine, Merosin-deficient congenital muscular dystrophy type 1A, Internal medicine, Genetics (clinical), Sanger sequencing, Psychomotor retardation, business.industry, NGS analysis, Muscle weakness, medicine.disease, RC31-1245, Human genetics, 030104 developmental biology, Mutation (genetic algorithm), Congenital muscular dystrophy, symbols, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9baa18c0dde4b68f38f1a3abb2b62a9aTest
https://doi.org/10.1186/s12920-021-00959-2Test -
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المؤلفون: Liem Thanh Nguyen, Kien Trung Tran, Chinh Duy Vu, Vinh Sy Le
المصدر: Biomedical Reports
مصطلحات موضوعية: 0301 basic medicine, Proband, de novo, LAMA2 gene, merosin deficient congenital muscular dystrophy type 1A, General Biochemistry, Genetics and Molecular Biology, whole exome sequencing, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Medicine, Missense mutation, General Pharmacology, Toxicology and Pharmaceutics, Muscular dystrophy, Gene, Exome sequencing, Muscle contracture, Genetics, Sanger sequencing, business.industry, General Neuroscience, Articles, General Medicine, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6039e7ade794474fe5d3ac2609cae0edTest
https://doi.org/10.3892/br.2019.1260Test -
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المصدر: Diagnostics
Diagnostics, Vol 10, Iss 741, p 741 (2020)مصطلحات موضوعية: 0301 basic medicine, Prioritization, Clinical Biochemistry, Case Report, Vietnamese, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, c.778C>T, LAMA2 variants, medicine, Missense mutation, c.2987G>A, Muscular dystrophy, Gene, Exome sequencing, Genetics, Sanger sequencing, lcsh:R5-920, c.778C&, medicine.disease, Structure and function, 030104 developmental biology, gt, symbols, WES, Immunohistochemistry, lcsh:Medicine (General), 030217 neurology & neurosurgery, LAMA2-related muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca613e2d6e797c432806806bf290c5d8Test
https://doi.org/10.3390/diagnostics10100741Test