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1دورية أكاديمية
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
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2دورية أكاديمية
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
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3دورية أكاديمية
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)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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4دورية أكاديمية
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
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5دورية أكاديمية
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
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6دورية أكاديمية
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
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7دورية أكاديمية
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
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8دورية أكاديمية
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)
وصف الملف: electronic resource
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9دورية أكاديمية
المصدر: PLoS Computational Biology, Vol 3, Iss 5, p e91 (2007)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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10Mutations inPDLIM5are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
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