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1دورية أكاديمية
المؤلفون: Klára Veres, Judit Bene, Kinga Hadzsiev, Miklós Garami, Sára Pálla, Rudolf Happle, Márta Medvecz, Zsuzsanna Zsófia Szalai
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 15; Pages: 12154
مصطلحات موضوعية: neurofibromatosis type-1, neurocutaneous syndrome, whole exome sequencing, segmental plexiform neurofibroma, splice-site mutations, superimposed mosaicism, second hit mutation, loss of heterozygosity, molecular targeted therapy
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms241512154Test
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2دورية أكاديمية
المؤلفون: Daniel Lu, Amy Nagelberg, Justine LM Chow, Yankuan T Chen, Quentin Michalchuk, Romel Somwar, William W. Lockwood
المصدر: Cancers; Volume 14; Issue 6; Pages: 1378
مصطلحات موضوعية: lung cancer, targeted therapies, Hepatocyte Growth Factor Receptor, splice-site mutations, RAS
وصف الملف: application/pdf
العلاقة: Molecular Cancer Biology; https://dx.doi.org/10.3390/cancers14061378Test
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3دورية أكاديمية
المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)
مصطلحات موضوعية: ATP7A, Menkes disease, occipital horn syndrome, genotype-phenotype, splice site mutations, splice-variant, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2021.532291/fullTest; https://doaj.org/toc/1662-5099Test
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4دورية أكاديمية
المؤلفون: Hisashi Udagawa, Masao Arai, Seiki Sato, Tomoyuki Komatsu, Tomoyuki Tajima
المصدر: Breeding Science. 2022, 72(3):248
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5دورية أكاديمية
المساهمون: Medical and Molecular Genetics, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Menkes disease, Occipital horn syndrome, Genotype-phenotype, Splice site mutations
وصف الملف: application/pdf
العلاقة: Frontiers in Molecular Neuroscience; Møller LB, Mogensen M, Weaver DD, Pedersen PA. Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15. Front Mol Neurosci. 2021;14:532291. Published 2021 Apr 21. doi:10.3389/fnmol.2021.532291; https://hdl.handle.net/1805/30523Test
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6دورية أكاديمية
المؤلفون: De Feyter, Silke, Beyens, Aude, Callewaert, Bert
المصدر: JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, ATP7A, ATPase, copper metabolism, genotype-phenotype, Menkes disease, neurodegenerative disorder, occipital horn syndrome, X-linked, SPLICE-SITE MUTATIONS, CYTOCHROME-C-OXIDASE, MENKES-DISEASE, GENE, TRAFFICKING, ACTIVATION, ATPASES, VARIANT
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5DTest; http://hdl.handle.net/1854/LU-01GTH7SC75F68S8Z8H42D2SA5DTest; http://doi.org/10.1002/jimd.12590Test; https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5D/file/01GTH7Y0RPJFVXYCDZCH3X0GH5Test
الإتاحة: https://doi.org/10.1002/jimd.12590Test
https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5DTest
http://hdl.handle.net/1854/LU-01GTH7SC75F68S8Z8H42D2SA5DTest
https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5D/file/01GTH7Y0RPJFVXYCDZCH3X0GH5Test -
7دورية أكاديمية
المؤلفون: Beyens, Aude, Van Meensel, Kyaran, Pottie, Lore, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Hoebeke, Piet, Plasschaert, Frank, Loeys, Bart, De Schepper, Sofie, Symoens, Sofie, Callewaert, Bert
المصدر: GENES ; ISSN: 2073-4425
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, occipital horn syndrome, Ehlers-Danlos syndrome type IX, Menkes syndrome, ATP7A, review, copper transport, elastic fiber, collagen, EHLERS-DANLOS-SYNDROME, SPLICE-SITE MUTATIONS, MENKES-DISEASE, ATP7A GENE, CANDIDATE GENE, SKIN FIBROBLASTS, NATURAL-HISTORY, PATIENT, PROTEIN
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8626189Test; http://hdl.handle.net/1854/LU-8626189Test; http://dx.doi.org/10.3390/genes10070528Test; https://biblio.ugent.be/publication/8626189/file/8647622Test
الإتاحة: https://doi.org/10.3390/genes10070528Test
https://biblio.ugent.be/publication/8626189Test
http://hdl.handle.net/1854/LU-8626189Test
https://biblio.ugent.be/publication/8626189/file/8647622Test -
8دورية أكاديمية
المؤلفون: Chau, Kevin K, Zhang, Pan, Urresti, Jorge, Amar, Megha, Pramod, Akula Bala, Chen, Jiaye, Thomas, Amy, Corominas, Roser, Lin, Guan Ning, Iakoucheva, Lilia M
المصدر: Cell Rep ; ISSN:2211-1247 ; Volume:36 ; Issue:9
مصطلحات موضوعية: alternative splicing, autism risk gene, autism spectrum disorder, co-expression module, human brain development, isoform transcriptome, neurodevelopmental disease, protein interaction network, splice-site mutations, splicing isoform expression
العلاقة: https://doi.org/10.1016/j.celrep.2021.109631Test; https://pubmed.ncbi.nlm.nih.gov/34469739Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437376Test/
الإتاحة: https://doi.org/10.1016/j.celrep.2021.109631Test
https://pubmed.ncbi.nlm.nih.gov/34469739Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437376Test/ -
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المصدر: Frontiers in Molecular Neuroscience
مصطلحات موضوعية: splice site mutations, splice-variant, ATP7A, occipital horn syndrome, Menkes disease, Neuroscience, Original Research, genotype-phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2e58886e9c6691cd32f089b8289d803cTest
https://pubmed.ncbi.nlm.nih.gov/33967692Test -
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المؤلفون: Lisbeth Birk Møller (10678740), Mie Mogensen (10678743), David D. Weaver (10678746), Per Amstrup Pedersen (10678749)
مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, ATP7A, Menkes disease, occipital horn syndrome, genotype-phenotype, splice site mutations, splice-variant
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