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المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 9 (2018)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Movement disorders, Ataxia, lcsh:QH426-470, NKX2-1 gene, Case Report, benign hereditary chorea, pituitary, 03 medical and health sciences, 0302 clinical medicine, Benign hereditary chorea, myoclonus dystonia, Hypogonadotropic hypogonadism, medicine, Genetics, chorea, Genetics (clinical), Dystonia, business.industry, Chorea, brain-lung-thyroid syndrome, medicine.disease, nervous system diseases, lcsh:Genetics, 030104 developmental biology, NKX2-1 related disorders, empty sella, Molecular Medicine, medicine.symptom, business, Haploinsufficiency, Myoclonus, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243568f0d88106caa3be8952d5fa7a66Test
http://europepmc.org/articles/PMC6113386Test -
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المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, pituitary, empty sella
الإتاحة: https://doi.org/10.3389/fgene.2018.00335.s002Test
https://figshare.com/articles/media/Video_1_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_MP4/6993350Test -
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المؤلفون: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, pituitary, empty sella
الإتاحة: https://doi.org/10.3389/fgene.2018.00335.s001Test
https://figshare.com/articles/dataset/Table_1_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_XLSX/6993347Test