المؤلفون: Adam Kiezun, Sara L Pulit, Laurent C Francioli, Freerk van Dijk, Morris Swertz, Dorret I Boomsma, Cornelia M van Duijn, P Eline Slagboom, G J B van Ommen, Cisca Wijmenga, Genome of the Netherlands Consortium, Paul I W de Bakker, Shamil R Sunyaev

المصدر: PLoS Genetics, Vol 9, Iss 2, p e1003301 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3585140?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/8d99e27d7b2b479aa5787a4f6862e289

المؤلفون: Peter A. C. 't Hoen, Floor De Kort, G. J. B. Van Ommen, Johan T. Den Dunnen

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://nar.oxfordjournals.org/content/31/5/e20.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.517.5494; http://nar.oxfordjournals.org/content/31/5/e20.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.517.5494
http://nar.oxfordjournals.org/content/31/5/e20.full.pdf

المؤلفون: A H Zwinderman, R. A. C. Roos, Aad Tibben, M-N W Witjes-Ané, G-J B van Ommen

المساهمون: Epidemiology and Data Science

المصدر: Journal of medical genetics, 39(11), 857-862. BMJ Publishing Group

مصطلحات موضوعية: business.industry, medicine.disease, Asymptomatic, Mood, Huntington's disease, Genetics, medicine, Anxiety, Apathy, medicine.symptom, Predictive testing, business, Asymptomatic carrier, Letter to JMG, Genetics (clinical), Depression (differential diagnoses), Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::796b243cdd81b83af5d11c5eb9a97ec1
https://doi.org/10.1136/jmg.39.11.857

المؤلفون: BALLABIO, ANDREA, FRANCO, BRUNELLA, M. C. Wapenaar, L. Schaefer, K. Ellison, G. B. Ferrero, A. Grillo, G. J. B. van Ommen, A. C. Chinault, H.Y. Zoghbi

المساهمون: Ballabio, Andrea, Franco, Brunella, M. C., Wapenaar, L., Schaefer, K., Ellison, G. B., Ferrero, A., Grillo, G. J. B., van Ommen, A. C., Chinault, Zoghbi, H. Y.

وصف الملف: STAMPA

Relation: 3rd X Chromosome Workshop; firstpage:0; lastpage:0; http://hdl.handle.net/11588/352025

الاتاحة: http://hdl.handle.net/11588/352025

المؤلفون: J.T. den Dunnen, Mattie Bremmer-Bout, G-J B van Ommen, Anneke A.M. Janson, Annemieke Aartsma-Rus, J.C.T. van Deutekom, Wendy E. Kaman

المصدر: Gene therapy. 11(18)

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Morpholino, Duchenne muscular dystrophy, Molecular Sequence Data, Muscle Fibers, Skeletal, Gene Dosage, Oligonucleotides, Electrophoretic Mobility Shift Assay, Dystrophin, chemistry.chemical_compound, Exon, Genetics, medicine, Humans, Locked nucleic acid, Molecular Biology, Cells, Cultured, Muscle Cells, Peptide nucleic acid, biology, Base Sequence, Oligonucleotide, Exons, Genetic Therapy, Oligonucleotides, Antisense, medicine.disease, Molecular biology, Exon skipping, Muscular Dystrophy, Duchenne, chemistry, Case-Control Studies, biology.protein, Molecular Medicine, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26f64d7d8e23fff5286a8e2449a369a
https://pubmed.ncbi.nlm.nih.gov/15229633

المؤلفون: M van Vugt, Takashi Saito, H.H van Ojik, Shozo Izui, Sandra M. M. Hellwig, G-J B van Ommen, Lucien A. Aarden, J. Gerber, R. Roozendaal, W.B. van den Berg, David M. Mosser, S.A da Silveira, S. de Kimpe, Andreea Ioan-Facsinay, Y.F de Jong, Christine Sedlik, Frans M. A. Hofhuis, J.G.J. van de Winkel, J. S. Verbeek, Sebastian Amigorena, P.L.E.M. van Lent

المساهمون: Landsteiner Laboratory, Infectious diseases

المصدر: Immunity, 16, 391-402
Immunity, Vol. 16, No 3 (2002) pp. 391-402
Immunity, 16(3), 391-402. Cell Press
Immunity, 16, 3, pp. 391-402

مصطلحات موضوعية: Whooping Cough, Phagocytosis, medicine.medical_treatment, Antigen presentation, Immunology, Arthritis, chemical and pharmacologic phenomena, ddc:616.07, Biology, Whooping Cough/ immunology, Bordetella pertussis, Pathogenesis and treatment [Chronic arthritis], Hypersensitivity/genetics/ immunology, Mice, Immune system, In vivo, medicine, Hypersensitivity, Immunology and Allergy, Animals, Receptors, IgG/genetics/ immunology, Receptor, Immunoglobulin G/immunology, Bordetella pertussis/ immunology, Cartilage/pathology, CD64, Mice, Knockout, Pathogenese en behandeling [Chronische arthritis], Receptors, IgG, Immunity, Immunity/genetics, medicine.disease, Arthritis, Experimental, Mice, Inbred C57BL, Arthritis, Experimental/genetics/ immunology/pathology, Cytokine, Infectious Diseases, Cartilage, Immunoglobulin G, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1a3cae053f3ff12d83428dcebf70697
http://hdl.handle.net/2066/142819

المؤلفون: G-J B van Ommen, A. van Haeringen, C.D. van Karnebeek, M.H. Breuning, Hans G. Dauwerse, J.H. Rubinstein, R.I. Blough, Rachel H. Giles, J.J. van der Smagt, Fred Petrij, Howard M. Saal, Dorien J.M. Peters, P.D. Maaswinkel-Mooy, Raoul C.M. Hennekam, R. Wallerstein

المساهمون: Other departments, Faculteit der Geneeskunde, Clinical Genetics, Hematology

المصدر: Journal of medical genetics, 37(3), 168-176. BMJ Publishing Group
Journal of Medical Genetics, 37, 168-176. BMJ Publishing Group
Scopus-Elsevier

مصطلحات موضوعية: medicine.medical_specialty, DNA Mutational Analysis, Genetic Vectors, Molecular Sequence Data, medicine.disease_cause, Exon, Molecular genetics, Genetics, medicine, Humans, Amino Acid Sequence, CREB-binding protein, Gene, Genetics (clinical), In Situ Hybridization, Fluorescence, Rubinstein-Taybi Syndrome, Mutation, Rubinstein–Taybi syndrome, biology, Base Sequence, Point mutation, Nuclear Proteins, Original Articles, medicine.disease, Cosmids, Molecular biology, CREB-Binding Protein, Karyotyping, biology.protein, Cosmid, Trans-Activators, sense organs, Gene Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2ef4e005114754393fb15f38cc5597
https://pure.amc.nl/en/publications/diagnostic-analysis-of-the-rubinsteintaybi-syndrome-five-cosmids-should-be-used-for-microdeletion-detection-and-low-number-of-protein-truncating-mutations(1e001bd4-76b8-4e43-9c8e-93d53dd3bb4a).html

المؤلفون: G-J B van Ommen, W.M.C. van Roon-Mom, A Weiss, Melvin M. Evers, S.A.M. Mulders, J.T. den Dunnen, A Roscic, J.C.T. van Deutekom, A. Aartsma-Rus

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:A13.3-A13

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, medicine.diagnostic_test, Mutant, Transfection, Biology, medicine.disease, Molecular biology, nervous system diseases, Psychiatry and Mental health, Huntington's disease, Western blot, mental disorders, medicine, Huntingtin Protein, Surgery, Neurology (clinical), Trinucleotide repeat expansion, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0f28af44f5cfd409e03316e7f31253b6
https://doi.org/10.1136/jnnp.2010.222596.8

المؤلفون: G-J B van Ommen, J.T. den Dunnen, Menno H. Schut, Rinse Klooster, Barry A. Pepers, W.M.C. van Roon-Mom

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:A13.1-A14

مصطلحات موضوعية: Phage display, Huntingtin, biology, Mutant, Molecular biology, Epitope, Psychiatry and Mental health, Exon, Mutant protein, biology.protein, Huntingtin Protein, Surgery, Neurology (clinical), Antibody

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c8f2b8b0daa8a210d35e6fe3cd7af6de
https://doi.org/10.1136/jnnp.2010.222596.10

المؤلفون: W.M.C. van Roon-Mom, G-J B van Ommen, Melvin M. Evers, S.A.M. Mulders, J.C.T. van Deutekom, A. Aartsma-Rus, J.T. den Dunnen

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:A13.4-A13

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Transfection, Biology, Protein aggregation, medicine.disease, Androgen receptor, Psychiatry and Mental health, Atrophy, Ataxin, Cancer research, medicine, Spinocerebellar ataxia, Surgery, Neurology (clinical), Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::320a2a602654fe9abb1f2d47f9bda2b2
https://doi.org/10.1136/jnnp.2010.222596.9

المؤلفون: G-J B van Ommen, J.T. den Dunnen, E. J. de Meijer, Rolf Turk, Ellen Sterrenburg, Peter A C 't Hoen

المصدر: BMC Genomics
BMC Genomics, Vol 6, Iss 1, p 98 (2005)

مصطلحات موضوعية: mdx mouse, Time Factors, Duchenne muscular dystrophy, Oligonucleotides, Gene Expression, Growth Differentiation Factor 9, Mice, Cluster Analysis, Drosophila Proteins, Muscular dystrophy, Child, Neuregulins, Oligonucleotide Array Sequence Analysis, Regulation of gene expression, biology, Receptors, Notch, Reverse Transcriptase Polymerase Chain Reaction, Muscles, Intracellular Signaling Peptides and Proteins, Nucleic Acid Hybridization, Up-Regulation, Intercellular Signaling Peptides and Proteins, Dystrophin, Bone Morphogenetic Protein 15, Biotechnology, Research Article, Signal Transduction, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Adolescent, Satellite Cells, Skeletal Muscle, lcsh:Biotechnology, Down-Regulation, Models, Biological, Glycoprotein complex, lcsh:TP248.13-248.65, Genetics, medicine, Animals, Humans, Regeneration, Regeneration (biology), Gene Expression Profiling, medicine.disease, Molecular biology, Gene expression profiling, Mice, Inbred C57BL, Muscular Dystrophy, Duchenne, lcsh:Genetics, Gene Expression Regulation, Mutation, biology.protein, Mice, Inbred mdx, RNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72373ede8ad743da0e68a8a998f19169
http://europepmc.org/articles/PMC1190170

المؤلفون: G-J B van Ommen, Martijn H. Breuning, J.T. den Dunnen, Stefan J. White, Ellen Sterrenburg

المصدر: Journal of Medical Genetics. 40:113e-113

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Locus (genetics), Computational biology, Human artificial chromosome, Biology, Electronic Letter, law.invention, law, Gene duplication, Multiplex polymerase chain reaction, medicine, Cosmid, Medical genetics, Human genome, Genetics (clinical), Polymerase chain reaction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc45206eb04036754050e4b1027ec527
https://doi.org/10.1136/jmg.40.10.e113

المؤلفون: E. Briët, G. J B Van Ommen, Cornelis L. Verweij, R. Quadt, H Pannekoek, K Dubbeldam

المصدر: Journal of Clinical Investigation. 81:1116-1121

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Biology, medicine.disease_cause, Von Willebrand factor, Bleeding time, Genetic linkage, hemic and lymphatic diseases, von Willebrand Factor, medicine, Humans, Allele, Gene, Genetics, Mutation, medicine.diagnostic_test, Chromosome Mapping, General Medicine, Molecular biology, Pedigree, von Willebrand Diseases, Phenotype, Genes, Genetic marker, biology.protein, Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length, Research Article, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a9bda803d0ebc0cf3b5185174c751f
https://doi.org/10.1172/jci113425

المؤلفون: Egbert Bakker, Peter L. Pearson, G. J. B. van Ommen

المصدر: Cold Spring Harbor Symposia on Quantitative Biology. 51:353-358

مصطلحات موضوعية: Male, X Chromosome, business.industry, Genetic Carrier Screening, Duchenne muscular dystrophy, Chromosome Mapping, Bioinformatics, medicine.disease, Biochemistry, Muscular Dystrophies, Pregnancy, Prenatal Diagnosis, Mutation, Genetics, Humans, Medicine, Female, business, Molecular Biology, Gene, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4074ca956e84aab8585a449cbf107f8
https://doi.org/10.1101/sqb.1986.051.01.042

المؤلفون: Jan A. Witkowski, Jeffrey S. Chamberlain, W. K. Seltzer, Edward R. B. McCabe, L. Baumbach, Jeffrey A. Towbin, M. Koenig, G. J B Van Ommen, Louis M. Kunkel

المصدر: Scopus-Elsevier

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Locus (genetics), Muscular Dystrophies, Exon, Glycerol Kinase, Complementary DNA, medicine, Humans, Muscular dystrophy, Genetics, biology, Phosphotransferases, Chromosome Mapping, Glycerol kinase deficiency, DNA, Syndrome, General Medicine, medicine.disease, Molecular biology, Blotting, Southern, genomic DNA, biology.protein, Chromosome Deletion, DNA Probes, Dystrophin, Research Article, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac3d5f228661be983a512c8f651bcb0
https://doi.org/10.1172/jci113890

المؤلفون: A H J T Bröcker-Vriends, Egbert Bakker, G. J. B. van Ommen, N. J. Carpenter, H. Veenema, Peter L. Pearson

المصدر: Human Genetics ISBN: 9783642716379
Human Genetics

مصطلحات موضوعية: Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f3d86cce2cbed77776cb8dacc8e087b3
https://doi.org/10.1007/978-3-642-71635-5_14

المؤلفون: E. Bakker, E. J. Bonten, H. Veenema, J. T. den Dunnen, P. M. Grootscholten, G. J. B. van Ommen, P. L. Pearson

المصدر: Studies in Inherited Metabolic Disease ISBN: 9789401069700

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c4454bf5677beab6a26be1c151ac4763
https://doi.org/10.1007/978-94-009-1069-0_13

المؤلفون: G. J. B. van Ommen, Gert S. P. Groot

المصدر: Mitochondria 1977

مصطلحات موضوعية: Mitochondrial DNA, Transcription (biology), Biology, Yeast, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fdf8e207e4a8c3ba8cc40ee70bfbf537
https://doi.org/10.1515/9783111533391-031

المؤلفون: R. Albanese, J. L. Antoine, B. Dutrillaux, T. Ashley, L. Avivi, I. Kariv, C. Barigozzi, L. Baratelli, S. Profeta, C. R. Bartram, A. de Klein, A. Hagemeijer, G. Grosveld, D. Bootsma, Michael D. Bennett, J. B. Smith, J. P. Ward, J. S. Heslop-Harrison, N. Blin, M. Kopun, C. H. C. M. Buys, T. Koerts, A. Y. van der Veen, L. de Leij, M. V. Civitelli, E. Capanna, J. Couturier, U. Arnason, N. Mandahl, N. Créau-Goldberg, C. Turleau, C. Cochet, J. de Grouchy, A. J. J. Dietrich, J. D. A. Delhanty, H. A. Mazzullo, H. M. G. Cooke, A. Dotan, M. E. Dresser, M. J. Moses, E. P. Evans, P. B. Burgoyne, M. Ferraro, P. Lavia, C. Fonatsch, H. H. Kirchner, A. Pajunk, M. Schaadt, H. Burrichter, V. Diehl, J. H. Ford, C. G. Roberts, B. Friebe, R. Vogel, M. Friedländer, R. Gamperl, E. Amtmann, H. Pfister, E. Gebhart, H. Wagner, P. Goetz, A. C. Chandley, R. M. Speed, V. J. Goyanes, J. B. Schvartzman, U. Graeven, H. J. Weh, D. K. Hossfeld, I. M. Greenblatt, U. Gripenberg, V. Söderlund, C. Wahlberg, L. Blomqvist, M. R. Guichaoua, D. Delafontaine, J. L. Taillemite, J. M. Luciani, T. Naaf, D. Grunert, M. Schmid, H. Hameister, K. Sperling, A. Hamers, P. Jongbloet, G. Peeters, J. Geraedts, B. Hartley-Asp, W. K. Heneen, L. Hens, M. Kirsch-Volders, C. Susanne, E. W. Herbst, H. Winking, C. P. Claussen, B. Putz, D. Sellin, U. Kolbus, A. Gropp, M. D. Bennett, C. Heyting, F. Koperdraad, E. J. W. Redeker, G. Holmquist, M. Goldman, Halina Jaworska, R. Johannisson, B. Kerem, R. Goitein, C. Richier, M. Marcus, H. Cedar, H. Koch, H. Hoehn, Manfred Kubbies, Peter S. Rabinovitch, W. Kunz, G. Franz, J. R. Lacadena, M. C. Cermeno, J. Orellana, J. L. Santos, F. Lemeunier, C. Derbin, C. C. Lin, D. I. Hoar, J. J. Hoo, H. C. Macgregor, S. Sims, H. A. Horner, P. Pellatt, J. M. Mackay, D. P. Fox, P. W. Brunt, A. W. Johnston, R. E. Magenis, J. Chamberlin, L. Allen, D. Tomar, S. Olson, T. Donlon, P. Marlekaj, A. Balcini, A. Fantoni, A. de Capoa, T. Martinsson, B. Dahllöf, G. Levan, S. Matsukuma, T. Utakoji, J. del Mazo, J. Avila, D. A. Miller, S. I. Feinstein, O. J. Miller, T. Morita, C. Delarbre, G. Gachelin, P. Kourilsky, K. Moritz, K. Moriwaki, N. Miyashita, H. T. Imai, C. H. Wang, F. Bonhomme, M. Murer-Orlando, A. C. Peterson, H. Neitzel, J. Bogenberger, F. Fittler, M. Gaenge, C. Schulze, H. Nietzel, F. Nürnberger, H. Höhn, G. J. B. van Ommen, F. Baas, A. C. Arnberg, P. L. Pearson, J. J. M. De Vijilder, E. Bakker, M. Hofker, M. C. Wapenaar, J. M. Parrington, L. F. West, S. Povey, F. Pasquali, R. Casalone, P. Bernasconi, J. Paul, U. Froster-Iskenius, E. Schwinger, W. Moje, P. O. Pearson, G. C. Beverstock, H. Veenema, J. J. v.d Kamp, E. Petitpierre, J. Philip, C. Lundsteen, M. van der Ploeg, A. C. van Prooijen-Knegt, J. G. J. Bauman, P. van Duijn, M. J. Puertas, A. de la Pena, B. Estades, F. Merino, S. R. V. Rao, K. Vasantha, B. K. Thelma, R. C. Juyal, S. C. Jhanwar, Ch Ratomponirina, A. Hamilton, Y. Rumpler, M. Moses, D. Raveh, A. Ben-Zeoev, C. A. Redi, S. Garagna, C. N. R. Italy, M. Robert-Nicoud, I. Streichhan, E. Möhr, R. Westermann, U. Grossbach, P. Sandberg, A. Levan, Mireille Schäfer, W. Schempp, J. M. J. C. Scheres, T. W. J. Hustinx, R. S. G. Holdrinet, R. R. Tice, T. Schwarzacher, R. A. Finch, J. B. Searle, T. Sharma, S. Sen, N. Cheong, E. Siebert, J. Loidl, R. M. Slater, J. de Kraker, P. A. Voute, J. F. M. Delemarre, D. F. C. M. Smeets, A. P. T. Smits, E. Solleder, B. Inglin, B. Geile, I. Somssich, E. Schwarz, G. Speit, K. Mehnert, W. Vogel, A. Stahl, M. Hartung, M. Devictor, M. Guichaoua, C. Stoll, M.-P. Roth, B. Dott, A. Tabor, M. Madsen, N. Tommerup, W. Traut, F. Chavin-Colin, C. Junien, M. Vekemans, D. Esseltine, W. Venegas, Cl Lasne, I. Chouroulinkov, F. Vidal, J. Navarro, C. Templado, J. Egozcue, E. Viegas-Péquignot, B. Malfoy, E. Taillandier, M. Leng, Y. Viinikka, H. Spielmann, S. Boldin, V. T. Volobouev, G. C. Webb, E. Krumins, R.-D. Wegner, E.-L. Lüdtke, A. Weith, M. Westerman, R. Thomson, A. Sinclair, Y. Z. Yacobi, M. Feldman, J. S. Yoon

المصدر: Chromosomes Today ISBN: 9789401091657

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::23fdbb7cf8ba0bed1e0e35c4d48712f5
https://doi.org/10.1007/978-94-010-9163-3_26

المؤلفون: Sansović, I, Morožin Pohovski, L, Barišić, I

المساهمون: G-J B van Ommen

مصطلحات موضوعية: Microduplication, Xp22.31, STS, intellectual disability, X chromosome, Intelectual dysability

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3ec2c9ab83e0f623308f61d92858267f
https://www.bib.irb.hr/731062