المؤلفون: Johanna Lehtonen, Anna-Maija Sulonen, Henrikki Almusa, Vilma-Lotta Lehtokari, Mridul Johari, Aino Palva, Anna H. Hakonen, Kirmo Wartiovaara, Anna-Elina Lehesjoki, Bjarne Udd, Carina Wallgren-Pettersson, Katarina Pelin, Marco Savarese, Janna Saarela

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/43e5137fe16b43bb8cfbbc8eaa443ea1

المؤلفون: Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423004995; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/e75223815948439e9477ffcd46c3405b

المؤلفون: Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski

المصدر: PLoS ONE, Vol 17, Iss 5, p e0267793 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bdeb40436e6343f8a22bc2390219ceff

المؤلفون: Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)

مصطلحات موضوعية: Nebulin, Murine model, Nemaline myopathy, Skeletal muscle, Neuromuscular disease, Congenital myopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-0893-1; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/091348b090194a35b6fa183d1b10a74b

المؤلفون: Lydia Sagath, Vilma-Lotta Lehtokari, Katarina Pelin, Kirsi Kiiski

المصدر: Genes, Vol 13, Iss 5, p 905 (2022)

مصطلحات موضوعية: Droplet Digital PCR, titin, TTN, copy number variation, segmental duplication, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/13/5/905; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/49fddfd1d2b142d8a6e573044516d52b

المؤلفون: Katarina Pelin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0e3823adc03a8357673c1f93b525af
https://doi.org/10.1111/cge.14350/v2/review1

المؤلفون: Kirsi Kiiski, Katarina Pelin, Lydia Sagath, Vilma-Lotta Lehtokari

المساهمون: Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Katarina Pelin / Principal Investigator, Molecular and Integrative Biosciences Research Programme, Biosciences, Genetics, HUSLAB, HUS Diagnostic Center, Department of Clinical Pharmacology

المصدر: Genes; Volume 13; Issue 5; Pages: 905

مصطلحات موضوعية: TTN, MUTATIONS, copy number variation, segmental duplication, 1184 Genetics, developmental biology, physiology, PROTEIN, Droplet Digital PCR, SKELETAL-MUSCLE SARCOMERE, TITIN, GENE, ACTIN, TEMPLATE, FILAMENTS, Genetics, LENGTH, titin, 3111 Biomedicine, Genetics (clinical), NEBULIN

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d51f3e0ae96795899cc8754ad5d4e8a2
http://hdl.handle.net/10138/345182

المؤلفون: Katarina Pelin

المصدر: eLS. :1-9

مصطلحات موضوعية: Genetics, business.industry, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::132847d6b83f2afe63a8ed09e3b8242d
https://doi.org/10.1002/9780470015902.a0029175

المؤلفون: Katarina Pelin, K. Kiiski, Manu Jokela, Maria Gardberg, Peter Hackman, Salla Välipakka, L. Sagath, Vilma Lotta Lehtokari, Anna Vihola, Bjarne Udd, Carina Wallgren-Pettersson

المساهمون: Medicum, Department of Medical and Clinical Genetics, Faculty of Biological and Environmental Sciences, University of Helsinki, Katarina Pelin / Principal Investigator, Molecular and Integrative Biosciences Research Programme, Biosciences, Genetics, HUS Diagnostic Center, HUSLAB

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, COPY-NUMBER VARIATION, CORE-ROD MYOPATHY, 03 medical and health sciences, Nebulin, Exon, 0302 clinical medicine, Nemaline myopathy, medicine, Copy-number variation, Myopathy, Nemaline bodies, Genetics (clinical), biology, Mosaicism, Copy number variation, MUTATIONS, 3112 Neurosciences, Muscle weakness, NEMALINE MYOPATHY, MUSCLE, medicine.disease, Congenital myopathy, GENE, de novo mutation, Large deletion, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abca50d44ce3335c33dc600d1e26677
http://hdl.handle.net/10138/345178

المؤلفون: Ian Holt, Mubashir Hanif, Katarina Pelin, Carina Wallgren-Pettersson, Caroline Sewry, Glenn E. Morris, J. Laitila, Le Thanh Lam

المساهمون: Katarina Pelin / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Molecular and Integrative Biosciences Research Programme, Genetics

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports

مصطلحات موضوعية: EXPRESSION, 0301 basic medicine, Gene isoform, Muscle Fibers, Skeletal, Muscle Proteins, lcsh:Medicine, Biology, Muscle Development, Sarcomere, Article, 03 medical and health sciences, Nebulin, Exon, LENGTHS, TRANSCRIPTS, Humans, Protein Isoforms, lcsh:Science, Cells, Cultured, Regulation of gene expression, Messenger RNA, Multidisciplinary, Myogenesis, Alternative splicing, lcsh:R, Antibodies, Monoclonal, Gene Expression Regulation, Developmental, NEMALINE MYOPATHY, Exons, HUMAN SKELETAL-MUSCLE, GENE, R1, Molecular biology, Alternative Splicing, PCR, 030104 developmental biology, biology.protein, lcsh:Q, 3111 Biomedicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06793e6388770b1260febcbb8437815
http://link.springer.com/article/10.1038/s41598-018-33281-6