المؤلفون: Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/9c66bfaff84f41c59607be77930bfc87Test

المؤلفون: Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini

المصدر: Biomolecules, Vol 13, Iss 11, p 1567 (2023)

مصطلحات موضوعية: FSHD, D4Z4 contraction, optical genome mapping, Bionano Genomics, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2218-273X/13/11/1567Test; https://doaj.org/toc/2218-273XTest

الوصول الحر: https://doaj.org/article/4ceed51d35294359b85fc944f493cbbfTest

المؤلفون: Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel

المصدر: Skeletal Muscle, Vol 7, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: SMCHD1, FSHD, Chromatin, Methylation, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13395-017-0129-7Test; https://doaj.org/toc/2044-5040Test

الوصول الحر: https://doaj.org/article/7d4343f6468f4c0481a4b6f8b2902983Test

المؤلفون: Peter E. Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J. L. F. Lemmers, Jessica C. de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand Roquelaure, Tsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. van Ostaijen-Ten Dam, Maarten J. D. van Tol, Corry Weemaes, Claire Francastel, Silvère M. van der Maarel, Hiroyuki Sasaki

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-2 (2016)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/39037390f270467296e8d2c54de0aed6Test

المؤلفون: Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gina Ravenscroft, Franclo Henning, Frederique Magdinier, Nienke van der Stoep, Patrick J. van der Vliet, Rafaëlle Bernard, Pedro J. Tomaselli, Mark R. Davis, Ichizo Nishino, Piraye Oflazer, Valerie Race, Venugopalan Y. Vishnu, Victoria Williams, Cláudia F. R. Sobreira, Silvere M. van der Maarel, Steve A. Moore, Nicol C. Voermans, Richard J. L. F. Lemmers

الإتاحة: https://doi.org/10.1111/cge.14533/v2/response1Test

المؤلفون: Kohei, Hamanaka, Darina, Šikrová, Satomi, Mitsuhashi, Hiroki, Masuda, Yukari, Sekiguchi, Atsuhiko, Sugiyama, Kazumoto, Shibuya, Richard J L F, Lemmers, Remko, Goossens, Megumu, Ogawa, Koji, Nagao, Chikashi, Obuse, Satoru, Noguchi, Yukiko K, Hayashi, Satoshi, Kuwabara, Judit, Balog, Ichizo, Nishino, Silvère M, van der Maarel

المصدر: Neurology. 94(23)

مصطلحات موضوعية: Homeodomain Proteins, Male, Chromosomal Proteins, Non-Histone, Biopsy, Homozygote, Muscle Fibers, Skeletal, Cell Cycle Proteins, Fibroblasts, Middle Aged, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Consanguinity, Gene Expression Regulation, Codon, Nonsense, Gene Duplication, Humans, Protein Isoforms, Chromosomes, Human, Pair 4, Frameshift Mutation, Muscle, Skeletal, Cells, Cultured, Repetitive Sequences, Nucleic Acid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::424887ef59a55280f010388af952f0a4Test
https://pubmed.ncbi.nlm.nih.gov/32467132Test

المؤلفون: Remko, Goossens, Marlinde L, van den Boogaard, Richard J L F, Lemmers, Judit, Balog, Patrick J, van der Vliet, Iris M, Willemsen, Julie, Schouten, Ignazio, Maggio, Nienke, van der Stoep, Rob C, Hoeben, Stephen J, Tapscott, Niels, Geijsen, Manuel A F V, Gonçalves, Sabrina, Sacconi, Rabi, Tawil, Silvère M, van der Maarel

المصدر: Journal of medical genetics. 56(12)

مصطلحات موضوعية: Adult, Gene Editing, Homeodomain Proteins, Male, Chromosomal Proteins, Non-Histone, Gene Expression, DNA Methylation, Middle Aged, Chromatin Assembly and Disassembly, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Mutation, Humans, Female, Genetic Predisposition to Disease, CRISPR-Cas Systems, Chromosomes, Human, Pair 4, Muscle, Skeletal, Alleles, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2ce3b68d71f1d3727e4dec4b19fc9578Test
https://pubmed.ncbi.nlm.nih.gov/31676591Test

المؤلفون: Richard J. L. F. Lemmers, Silvère M. Van Der Maarel, Judith C. T. Van Deutekom, Giancarlo Deidda, Hans G. Dauwerse, Jane Hewitt, Marten Hofker, Egbert Bakker, George W. Padberg, Rune R. Frants

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/7/8/1207.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.509.7253Test; http://hmg.oxfordjournals.org/content/7/8/1207.full.pdfTest

الإتاحة: http://hmg.oxfordjournals.org/content/7/8/1207.full.pdfTest

المؤلفون: Patrizia Calandra1, Nicoletta Rossi 1, Richard J. L. F. Lemmers 2, Emanuela Teveroni 1, Mauro Monforte 3, Enzo Ricci 3, Fabiola Moretti 1, Silvère M. van der Maarel 2, Giancarlo Deidda 1.

المصدر: FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2018 International Research Congress & Research Planning Meetings, las vegas NV USA, June 8-9, 2018
info:cnr-pdr/source/autori:Patrizia Calandra1, Nicoletta Rossi 1, Richard J. L. F. Lemmers 2, Emanuela Teveroni 1, Mauro Monforte 3, Enzo Ricci 3, Fabiola Moretti 1, Silvère M. van der Maarel 2, Giancarlo Deidda 1./congresso_nome:FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2018 International Research Congress & Research Planning Meetings/congresso_luogo:las vegas NV USA/congresso_data:June 8-9, 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: fshd, muscular dystrophy, epigenetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=cnr_________::88df7498b43115eeb5bbac0a82a9402fTest
http://www.cnr.it/prodotto/i/395753Test

المؤلفون: Richard J L F, Lemmers

المصدر: Methods in molecular biology (Clifton, N.J.). 1492

مصطلحات موضوعية: Homeodomain Proteins, DNA Copy Number Variations, Molecular Diagnostic Techniques, Chromosomes, Human, Pair 10, Humans, Muscular Dystrophy, Facioscapulohumeral, Electrophoresis, Gel, Pulsed-Field

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::219e490526c193b03b7a67d74193506cTest
https://pubmed.ncbi.nlm.nih.gov/27822859Test