-
1
المؤلفون: George W. Padberg, J.C. de Greef, O.A. Chan, S.M. van der Maarel, Kerstin Hansson, Dominique Smeets, M. Wohlgemuth, Corry M.R. Weemaes, R.R. Frants
المصدر: Neurology, 69, 1018-26
Neurology, 69, 10, pp. 1018-26مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, DNMT3B, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], DUX4, Perception and Action [DCN 1], medicine, Humans, Facioscapulohumeral muscular dystrophy, Epigenetics, Muscular dystrophy, Alleles, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Aged, Genetics, DNA Methylation, Middle Aged, medicine.disease, Subtelomere, Neuromuscular development and genetic disorders [UMCN 3.1], Muscular Dystrophy, Facioscapulohumeral, Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Phenotype, Tandem Repeat Sequences, Mutation, Female, Neurology (clinical), Chromosomes, Human, Pair 4, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a28c24501442ee838906b4c319fd43c
https://doi.org/10.1212/01.wnl.0000271391.44352.fe -
2
المؤلفون: Gisela M. Terwindt, Joost Haan, R.R. Frants, K R J Vanmolkot, A.M.J.M. van den Maagdenberg, S. Kheradmand Kia, E. E. Kors, P. T. V. M. De Jong, Michel D. Ferrari, Jouke J. Hottenga
المساهمون: Ophthalmology
المصدر: Cephalalgia, 25(12), 1168-1172. SAGE Publications Ltd
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Migraine Disorders, Quantitative Trait Loci, Locus (genetics), Comorbidity, Risk Assessment, 03 medical and health sciences, Quantitative Trait, Heritable, 0302 clinical medicine, Retinal Diseases, Prevalence, Humans, Medicine, Genetic Predisposition to Disease, Sibling, Child, Genes, Dominant, Netherlands, business.industry, Haplotype, Raynaud Disease, Sequence Analysis, DNA, General Medicine, Transmission disequilibrium test, medicine.disease, Pathophysiology, Hereditary vascular retinopathy, Surgery, Phenotype, Haplotypes, Migraine, Immunology, 030221 ophthalmology & optometry, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
-
3
المؤلفون: S.M. van der Maarel, Jane E. Hewitt, R.J.L.F. Lemmers, George W. Padberg, Giancarlo Deidda, R.R. Frants, S. van Koningsbruggen, Tonnie Rijkers, M. van Geel, D. Figlewicz, J.C.T. van Deutekom
المصدر: Journal of Medical Genetics, 41, 826-36
Journal of Medical Genetics, 41, 11, pp. 826-36مصطلحات موضوعية: Male, Transcriptional Activation, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Myoblasts, Skeletal, Molecular Sequence Data, Chromosomal rearrangement, Biology, Muscle Development, Genetics, medicine, Humans, Gene family, Facioscapulohumeral muscular dystrophy, Genetic Predisposition to Disease, Amino Acid Sequence, Promoter Regions, Genetic, Gene, Cells, Cultured, Genetics (clinical), Base Sequence, Chromosomes, Human, Pair 10, Myogenesis, Nuclear Proteins, Proteins, Cell Differentiation, Promoter, medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Muscular Dystrophy, Facioscapulohumeral, Up-Regulation, Chromosome 4, Female, Original Article, Chromosomes, Human, Pair 4
وصف الملف: application/pdf
-
4
المؤلفون: Egbert Bakker, George W. Padberg, R.J.L.F. Lemmers, E.L. van der Kooi, M. Wohlgemuth, Hans G. Dauwerse, S.M. van der Maarel, M.J.R. van der Wielen, R.R. Frants, P. G. van Overveld
المصدر: Neurology, 61, 909-13
Neurology, 61, 7, pp. 909-13مصطلحات موضوعية: Male, Proband, musculoskeletal diseases, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Restriction Mapping, Gene Dosage, Penetrance, Biology, Compound heterozygosity, Loss of heterozygosity, medicine, Humans, Facioscapulohumeral muscular dystrophy, Allele, Alleles, In Situ Hybridization, Fluorescence, Aged, Genes, Dominant, Repetitive Sequences, Nucleic Acid, Genetics, Chromosome, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Muscular Dystrophy, Facioscapulohumeral, Electrophoresis, Gel, Pulsed-Field, Pedigree, nervous system diseases, Phenotype, Chromosome 4, Cytogenetic Analysis, Female, Neurology (clinical), Chromosomes, Human, Pair 4
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd59f89b86f73d01ddb684e83ed30f22
https://hdl.handle.net/2066/186385 -
5
المؤلفون: Joost Haan, K R J Vanmolkot, Gisela M. Terwindt, Amjm van den Maagdenberg, R.R. Frants, Ferrari
المصدر: Cephalalgia. 28:471-473
مصطلحات موضوعية: business.industry, Migraine Disorders, Models, Neurological, Brain, Nerve Tissue Proteins, Syndrome, General Medicine, Neurovascular bundle, medicine.disease, Cerebrovascular Disorders, Migraine, medicine, Humans, Genetic Predisposition to Disease, Neurology (clinical), business, Neuroscience, Gene, Signal Transduction
-
6
المؤلفون: E. Voorhoeve, R.R. Frants, M.J.R. van der Wielen, P.F. Ippel, Egbert Bakker, George W. Padberg, Cisca Wijmenga
المصدر: Journal of Medical Genetics, 33, 29-35
Scopus-Elsevier
Journal of Medical Genetics, 33, 1, pp. 29-35
Journal of Medical Genetics, 33, 29-35. British med journal publ group
Journal of Medical Genetics, 33, pp. 29-35مصطلحات موضوعية: Genetic Markers, Male, Restriction Mapping, Prenatal diagnosis, Locus (genetics), Clinical and genetic studies in facioscapulohumeral Muscular Dystrophy, Bioinformatics, Muscular Dystrophies, Pregnancy, Prenatal Diagnosis, Genetics, Medicine, Facioscapulohumeral muscular dystrophy, Humans, Mutation frequency, Muscular dystrophy, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), business.industry, Klinisch en genetisch onderzoek bij facioscapulohumerale spierdystrofie, DNA, medicine.disease, Major gene, Pedigree, Fetal Diseases, Genetic marker, Female, Differential diagnosis, business, Research Article
وصف الملف: application/pdf
-
7
المؤلفون: T.W.J. Huizinga, B. B. A. De Vries, M. D. Ferrari, J. Luyendijk, A.M.J.M. van den Maagdenberg, E.L.E.M. Bollen, R.R. Frants, M.A. van Buchem, Gerda M Steup-Beekman, G.M. Terwindt, Jeroen de Haan
المصدر: Annals of the Rheumatic Diseases, 69(10), 1886-1887
مصطلحات موضوعية: Adult, Male, Immunology, medicine.disease_cause, dna exonuclease trex1 mutations, General Biochemistry, Genetics and Molecular Biology, Young Adult, Rheumatology, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Mutation, Direct sequencing, Cerebral white matter, business.industry, TREX1 Gene, Lupus Vasculitis, Central Nervous System, Middle Aged, Phosphoproteins, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Neuropsychiatric systemic lupus erythematosus, Exodeoxyribonucleases, Migraine, Etiology, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4a21ee6d46eb5f1dae630936146be3
https://hdl.handle.net/1887/117684 -
8
المؤلفون: M. D. Ferrari, A. C. J. W. Janssens, B. B. A. De Vries, C M van Duijn, Y S Aulchenko, A.M.J.M. van den Maagdenberg, Anine H. Stam, G.M. Terwindt, B.A. Oostra, Peter Henneman, K R J Vanmolkot, R.R. Frants
المصدر: Neurology, 74(4), 288-94
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Aura, Migraine Disorders, Comorbidity, Hospital Anxiety and Depression Scale, Genetic correlation, Sex Factors, Internal medicine, Surveys and Questionnaires, medicine, Odds Ratio, Prevalence, Humans, Genetic Predisposition to Disease, Psychiatry, Depression (differential diagnoses), Netherlands, Depressive Disorder, business.industry, Articles, Center for Epidemiologic Studies Depression Scale, Heritability, Middle Aged, medicine.disease, Health Surveys, Migraine with aura, Pedigree, Phenotype, Migraine, Female, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc670874abd5cfa157f6b1a1532e8f0f
https://hdl.handle.net/1887/120078 -
9
المؤلفون: George W. Padberg, Claude Desnuelle, A.L. Rosa, M. Dunand, Mark A. Tarnopolsky, John W. Day, R.R. Frants, Simone Spuler, Shannon L. Venance, Rabi Tawil, Sabrina Sacconi, Pilar Camaño, J.C. de Greef, S.M. van der Maarel, B.G.M. van Engelen, Richard J.L.F. Lemmers, Sari Kiuru-Enari
المصدر: Neurology, 75, 1548-54
Neurology, 75, 17, pp. 1548-54
Neurology, 75(17), 1548-1554مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Pathology, Adolescent, Genotype, Gastroenterology, Cohort Studies, Young Adult, DUX4, Internal medicine, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular dystrophy, Child, Southern blot, Family Health, DNA Repeat Expansion, Polymorphism, Genetic, business.industry, dna rearrangements fshd hypomethylation phenotype d4z4 size, Microfilament Proteins, Infant, Newborn, Infant, Nuclear Proteins, RNA-Binding Proteins, Articles, DNA Methylation, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Cross-Sectional Studies, Phenotype, Child, Preschool, DNA methylation, Cohort, Female, Neurology (clinical), Chromosomes, Human, Pair 4, business, Functional Neurogenomics [DCN 2], Cohort study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9ee2a75b1154b8b60ec861d55deaff8
https://doi.org/10.1212/WNL.0b013e3181f96175 -
10
المؤلفون: Daniel E. Weeks, Mark H. Skolnick, Stuart Sherman, S.W. Guo, R.F. Kefford, Rudolph E. Tanzi, Erik W. Thompson, S. Williams-Blangero, Jack T. Rogers, Nancy R. Mendell, R.R. Frants, P.M. Stewart, B. McKnight, G.M. Cox, Darlene R. Goldstein, J. Ott, G.E. Bonney, Sarah R. Wilson, C.E. Aston, D.L. Duffy, Terence P. Speed, N. Risch, B.S. Weir, R.A. Lewis, G.P. Vogler, M. Frigge, M.A. Province, Gary A. Chase, A. Kong, D.E. Goldgar, A.C. Warren, C.M. Lewis, C. Tierney, Susan E. Hodge, N.G. Martin, Aravinda Chakravarti, A.P. Round, K.K. Amfoh, Deborah A. Meyers, D.R. Cox, H.M. Shaw, J.D. Elashoff, C.I. Amos, Katheleen Gardiner, Lisa A. Cannon-Albright, H. Yuan, C. Murigande, G.M. Petersen, D.F. Easton, M.B. Risman, Lynn R. Goldin, S.J. Bale, A.M. Macdonald, P. Van Eerdewegh, E.L. Harris, Sherri J. Bale, David Patterson, P. Watkms, Nan Rochberg, M.A. Tucker, E.B. Claus, Ellen M. Wijsman, J.D. Terwilliger, S. Lawrence, P. Szolovits, N. Risen, C.M. Kammerer, Stylianos E. Antonarakis, J.E. Reefer, Veronica J. Vieland, Timothy Bishop, G.P. Crockford, F.M. Demenais, Rudy Guerra, M.H. Skolnick, M.W. Piepkorn, S. Moldin, James A. Trofatter, N. Cox, L.A. Cupples, H. Blossey, J. Blangero, L.A. Farrer, V.L. Prenger, I.B. Borecki, J.A. Donald, N.A. Gruis, P. M. Conneally, L.R. Weitkamp, Terri H. Beaty, L.J. Meyer, B.G. Mellen, T.M. King, B. Towne, A.E. Laing, Richard H. Myers, J.J. Zone, P. Green, L.W. Konigsberg, D.T. Bishop, Rita M. Cantor, Chad Haynes, Joan E. Bailey-Wilson, Margaret A. Pericak-Vance, M. Boehnke, T.E. Dobbins, C.T. Falk, N. Morton, J.A. Salmon, S.L. Sherman, Jonathan Haines, W. Bergman, Mary Sara McPeek, L. Giuffra, R. Neuman, N.E. Maestri, David A. Greenberg, James F. Gusella, Maria Martinez, T. Rice, W.H. Wong, B.A.J. Ponder, W.H. McCarthy, Nancy S. Wexler, T. Lehner, M.C. Speer, A. Chakravarti, C.R. Colyer, J.K. Rivers, B.J.B. Keats, A.M. Goldstein, David R. Cox, Jean W. MacCluer, D.C. Thomas
المصدر: Cytogenetic and Genome Research. 59:234-240
مصطلحات موضوعية: Medical education, Genetics, Biology, Bioinformatics, Molecular Biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::45f2fd4a6cb6488607748c9e46d2d8ba
https://doi.org/10.1159/000133257
