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1دورية أكاديمية
المؤلفون: Helle Høyer, Øyvind L. Busk, Q. Ying. Esbensen, Oddveig Røsby, Hilde T. Hilmarsen, Michael B. Russell, Tuula A. Nyman, Geir J. Braathen, Hilde L. Nilsen
المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-15 (2022)
مصطلحات موضوعية: CMT2, Peripheral neuropathy, AARS1, Mitochondrial dysfunction, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2377
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المؤلفون: Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach
المصدر: Journal of medical genetics 59(10), 1024-1026 (2022). doi:10.1136/jmedgenet-2021-108281
مصطلحات موضوعية: Gene Frequency, Mutation, Genetics, Endrin, Humans, Exons, Genetics (clinical), Alleles
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المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford
المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787 -
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المؤلفون: Øystein L, Holla, Øyvind L, Busk, Kristian, Tveten, Hilde T, Hilmarsen, Linda, Strand, Helle, Høyer, Anette, Bakken, Camilla F, Skjelbred, Geir J, Braathen
المصدر: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 135(20)
مصطلحات موضوعية: Informed Consent, Norway, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Humans, Exome, Sequence Analysis, DNA, Syndrome, Nervous System Diseases, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::def04639327a705be8b22dd4e990355b
https://pubmed.ncbi.nlm.nih.gov/26534791