المؤلفون: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

مصطلحات موضوعية: dilated cardiomyopathy, genetic modifier, genetics, sarcomere, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec

المؤلفون: Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

المصدر: Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)

مصطلحات موضوعية: FITM2, Lipid droplets, Drosophila, Hearing impairment, Motor development, Dystonia, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/10/2/105; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/61e74f9ef396439ebd381addcbedf971

المؤلفون: Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen

المصدر: PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/206fb09f592a41a7979de76d71996765

المؤلفون: Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: mitochondrial disease, next-generation sequencing, mtDNA sequencing, whole-exome sequencing, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00400/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1

المؤلفون: Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets

المصدر: Frontiers in Molecular Neuroscience, Vol 10 (2017)

مصطلحات موضوعية: high-fat diet, palmitic acid, complex I deficiency, TMEM126B, assembly factors, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fnmol.2017.00336/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/0add165ba1894e8ebb9f94e220e1530b

المؤلفون: Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets

المصدر: Frontiers in Neurology, Vol 7 (2016)

مصطلحات موضوعية: brain MRI, CLPP, genetic diagnosis, Perrault syndrome, Perrault syndrome type 3, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00203/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26

المؤلفون: Robin van der Lee, Qian Feng, Martijn A Langereis, Rob Ter Horst, Radek Szklarczyk, Mihai G Netea, Arno C Andeweg, Frank J M van Kuppeveld, Martijn A Huynen

المصدر: PLoS Computational Biology, Vol 11, Iss 10, p e1004553 (2015)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4618338?pdf=render; https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/83c13d2a5fe64fe289f11af4c47b32e9

المؤلفون: Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn

المصدر: PLoS Genetics, Vol 9, Iss 12, p e1004034 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3873243?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/93999b89de8d43acbcc2fe2d63f732d2

المؤلفون: Wen-Yu Chung, Samir Wadhawan, Radek Szklarczyk, Sergei Kosakovsky Pond, Anton Nekrutenko

المصدر: PLoS Computational Biology, Vol 3, Iss 5, p e91 (2007)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC1868773?pdf=render; https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/98cf1f4db23b4876a7968fbed4525e14

المؤلفون: Kari Casas, Emma L. Robinson, Radek Szklarczyk, Ingrid P.C. Krapels, Gabriel Kringlen, Mohamed W. Mohamed, Kiely N. James, Godelieve R.F. Claes, Shareef Nahas, Jan F. C. Glatz, Els K. Vanhoutte, Michele M. Pasierb, Arthur van den Wijngaard, Stephane Heymans, Job Verdonschot, Han G. Brunner, Mark R. Hazebroek

المساهمون: RS: Carim - H02 Cardiomyopathy, Promovendi CD, Cardiologie, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), MUMC+: MA Med Staf Artsass Cardiologie (9), Moleculaire Genetica, MUMC+: MA Med Staf Spec Cardiologie (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Molecular Genetics & Genomic Medicine, 8, 2
Molecular genetics & genomic medicine, 8(2):e1049. Wiley
Molecular Genetics & Genomic Medicine, 8
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Muscle Proteins, Genome-wide association study, VARIANTS, 030105 genetics & heredity, medicine.disease_cause, Exon, Loss of Function Mutation, MYOZ2, Connectin, genetics, Genetics (clinical), Genetics & Heredity, Genetics, genetic modifier, Mutation, Microfilament Proteins, LIM Domain Proteins, Middle Aged, Penetrance, Phenotype, Pedigree, SEVERE FORM, LEADS, ENIGMA HOMOLOG, cardiovascular system, Female, Original Article, Life Sciences & Biomedicine, Adult, Cardiomyopathy, Dilated, lcsh:QH426-470, PROTEINS, Biology, 03 medical and health sciences, Exome Sequencing, medicine, Humans, Genetic Testing, GENOME-WIDE ASSOCIATION, Molecular Biology, Gene, Adaptor Proteins, Signal Transducing, Aged, Genes, Modifier, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myocardium, Original Articles, LDB3, dilated cardiomyopathy, lcsh:Genetics, 030104 developmental biology, sarcomere, Carrier Proteins

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4956e352d9f41f1869c143a1c16a309e
https://doi.org/10.1002/mgg3.1049