المؤلفون: Tom W J Huizinga, Hans Scheffer, Piet L. C. M. van Riel, T.L.Th.A. Jansen, Anne Barton, Henk-Jan Guchelaar, Paul P. Tak, Ellen A J Dutmer, Leonid Padyukov, Remco R. R. Makkinje, Han G. Brunner, Sita H. Vermeulen, Peter K. Gregersen, Robert M. Plenge, Xavier Mariette, Timothy R D J Radstake, Renee Allaart, Corinne Miceli, Dirk Jan Van Schaardenburg, Pilar Barrera, Maša Umićević Mirkov, S. Louis Bridges, Marieke J H Coenen, Niek de Vries, Annette Lee, Jing Cui, Barbara Franke, Mart A F J van de Laar, Eli A. Stahl, Saedis Saevarsdottir, Erik J M Toonen, Lindsey A. Criswell

المساهمون: Faculty of Behavioural, Management and Social Sciences, Psychology, Health & Technology, Clinical Immunology and Rheumatology, AII - Amsterdam institute for Infection and Immunity, Rheumatology, CCA - Disease profiling

المصدر: Annals of the Rheumatic Diseases, 72, 8, pp. 1375-81
Annals of the Rheumatic Diseases, 72, 1375-81
Annals of the rheumatic diseases, vol 72, iss 8
Annals of the rheumatic diseases, 72, 1375-1381. BMJ
Annals of the rheumatic diseases, 72(8), 1375-1381. BMJ Publishing Group
Annals of the Rheumatic Diseases, 72(8), 1375-1381. BMJ Publishing Group
Mirkov, M U, Cui, J, Vermeulen, S H, Stahl, E A, Toonen, E J M, Makkinje, R R, Lee, A T, Huizinga, T W J, Allaart, R, Barton, A, Mariette, X, Miceli, C R, Criswell, L A, Tak, P P, de Vries, N, Saevarsdottir, S, Padyukov, L, Bridges, S L, van Schaardenburg, D, Jansen, T L, Dutmer, E A J, van de Laar, M A F J, Barrera, P, Radstake, T R D J, van Riel, P L C M, Scheffer, H, Franke, B, Brunner, H G, Plenge, R M, Gregersen, P K, Guchelaar, H J & Coenen, M J H 2013, ' Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis ', Annals of the Rheumatic Diseases, vol. 72, no. 8, pp. 1375-1381 . https://doi.org/10.1136/annrheumdis-2012-202405Test
Annals of the Rheumatic Diseases, 72(8), 1375-1381

مصطلحات موضوعية: Male, Oncology, DNA Mutational Analysis, Drug Resistance, IR-86362, Genome-wide association study, DCN PAC - Perception action and control, Cell morphology, Receptors, Tumor Necrosis Factor, Etanercept, Arthritis, Rheumatoid, Anti-TNF, Rheumatoid, Receptors, Monoclonal, 2.1 Biological and endogenous factors, Immunology and Allergy, Registries, Aetiology, Humanized, Health aging / healthy living Pathogenesis and modulation of inflammation [IGMD 5], Antibodies, Monoclonal, Single Nucleotide, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Connective tissue disease, Antirheumatic Agents, Rheumatoid arthritis, Public Health and Health Services, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Female, Genetic Markers, medicine.medical_specialty, Clinical Sciences, Immunology, METIS-291290, Rheumatoid Arthritis, Single-nucleotide polymorphism, Antibodies, Monoclonal, Humanized, Polymorphism, Single Nucleotide, Autoimmune Disease, Article, Antibodies, General Biochemistry, Genetics and Molecular Biology, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Molecular epidemiology [NCEBP 1], Gene Polymorphism, Rheumatology, Internal medicine, Genetics, medicine, Humans, Polymorphism, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Tumor Necrosis Factor-alpha, business.industry, Arthritis, Inflammatory and immune system, Human Genome, Adalimumab, medicine.disease, Infliximab, Arthritis & Rheumatology, Gene Expression Regulation, Pharmacogenetics, Genetic marker, Immunoglobulin G, Gene polymorphism, Tumor Necrosis Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1200625a9d12ca0938a6cd05b0c87504Test
https://doi.org/10.1136/annrheumdis-2012-202405Test

المؤلفون: Klebe, Stephan, Golmard, Jean-Louis, Charfi, Rim, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Freeman, Colin, Gao, Jianjun, Gardner, Michelle, Gibbs, Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Klein, Christine, Gústafsson, Omar, Harris, Clare, Hellenthal, Garrett, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hagenah, Johann, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Gasser, Thomas, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Morris, Huw, Morrison, Karen E, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Pearson, Richard, Perlmutter, Joel S, Wurster, Isabel, Pétursson, Hjörvar, Pirinen, Matti, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Lesage, Suzanne, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, de Silva, Rohan, Smith, Colin, Spencer, Chris Ca, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Su, Zhan, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Deuschl, Günther, Traynor, Bryan J, Uitterlinden, G., Vandrovcova, Jana, Velseboer, Daan, Vidailhet, Marie, Vukcevic, Damjan, Walker, Robert, van de Warrenburg, Bart, Weale, Michael E, Wickremaratchi, Mirdhu, Durif, Franck, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Martinez, Maria, Donnelly, Peter, Hardy, John, Heutink, Peter, Brice, Alexis, Wood, Nicholas W, Singleton, Andrew B, Nalls, Michael A, Damier, Philippe, Durr, Alexandra, Amouyel, Philippe, Lambert, Jean-Charles, Tzourio, Christophe, Maubaret, Cécilia, Charbonnier-Beaupel, Fanny, Tahiri, Khadija, Saad, Mohamad, Corvol, Jean-Christophe, Group, French Parkinson's Disease Genetics Study, Consortium, International Parkinson's Disease Genomics, Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Brice, A., Broussolle, E., Corvol, J-C, Damier, Ph, Destée, A., Durr, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Bras, Jose M, Pollak, P., Krack, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Simón-Sánchez, Javier, Schulte, Claudia, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Band, Gavin, Simon-Sanchez, Javier, Barker, Roger A, Bellinguez, Céline, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob Ma, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Kuhlenbäumer, Gregor, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Dartigues, Jean-François, Deloukas, Panos, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank

المساهمون: INSERM UMR_S9745, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de Biostatistiques [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), UCL Institute of neurology, UCL Institute of Neurology, Department of Clinical Genetics, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Institute of Experimental Medicine, Christian-Albrechts-University, Department of Neurology, University of Lübeck, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Christian-Albrechts-Universität zu Kiel (CAU), Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Epidémiologie des maladies chroniques : impact des interactions gène environnement sur la santé des populations, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Service de neurologie [Univ. Paris VII], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Departamento de Geologia CICESE, Centro de Investigacion Cientifica y de Education Superior de Ensenada [Mexico] (CICESE), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Human genetics, NCA - Brain mechanisms in health and disease, NCA - neurodegeneration, Child and Adolescent Psychiatry / Psychology, ANS - Amsterdam Neuroscience, Neurology, Graduate School, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Département de Neurologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-IFR70-CHU Pitié-Salpêtrière [APHP]

المصدر: Klebe, S, Golmard, J L, Nalls, M A, Saad, M, Singleton, A B, Bras, J M, Hardy, J, Simon Sanchez, J, Heutink, P, Kuhlenbäumer, G, Charfi, R, Klein, C, Hagenah, J, Gasser, T, Wurster, I, Lesage, S, Lorenz, D, Deuschl, G, Durif, F, Pollak, P, Damier, P, Tison, F, Durr, A, Amouyel, P, Lambert, J C, Tzourio, C, Maubaret, C, Charbonnier-Beaupel, F, Tahiri, K, Vidailhet, M, Martinez, M, Brice, A & Corvol, J C 2013, ' The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 84, no. 6, pp. 666-673 . https://doi.org/10.1136/jnnp-2012-304475Test
Journal of neurology, neurosurgery, and psychiatry 84(6), 666-673 (2013). doi:10.1136/jnnp-2012-304475
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2013, 84 (6), pp.666-73. ⟨10.1136/jnnp-2012-304475⟩
Journal of Neurology, Neurosurgery, and Psychiatry, 84, 6, pp. 666-73
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 84, No 6 (2013) pp. 666-73
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2013, 84 (6), pp.666-73. ⟨10.1136/jnnp-2012-304475⟩
Journal of Neurology, Neurosurgery, and Psychiatry, 84, 666-73
Journal of Neurology, Neurosurgery and Psychiatry, 84(6), 666-673. BMJ Publishing Group
Journal of Neurology Neurosurgery and Psychiatry, 84(6), 666-673. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 84(6), 666-673. BMJ Publishing Group

مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, DCN MP - Plasticity and memory, [SDV]Life Sciences [q-bio], genetics [Catechol O-Methyltransferase], Neurogenetics, Catechol O-Methyltransferase/genetics, Catechol O-Methyltransferase, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Sex Factors, 0302 clinical medicine, genetics [Parkinson Disease], Internal medicine, medicine, Humans, ddc:610, Parkinson Disease/genetics, Age of Onset, Allele, Aged, 030304 developmental biology, Genetics, 0303 health sciences, Movement Disorders, Parkinson's Disease, Catechol-O-methyl transferase, Parkinson Disease, Middle Aged, Polymorphism, Single Nucleotide/genetics, ddc:616.8, Sexual dimorphism, Psychiatry and Mental health, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Endocrinology, Cohort, genetics [Polymorphism, Single Nucleotide], Surgery, Neurology (clinical), Age of onset, Psychology, 030217 neurology & neurosurgery, rs4680

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8129489329a06193721db82911dde8efTest
https://doi.org/10.1136/jnnp-2012-304475Test

المؤلفون: Vernooij-van Langen, A.M., Loeber, J.G., Elvers, B., Triepels, R.H., Gille, J.J.P., Ploeg, C.P. van der, Reijntjens, S., Dompeling, E., Dankert-Roelse, J.E., Yntema, J.L.

المساهمون: Human genetics, CCA - Innovative therapy, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: CAPHRI School for Public Health and Primary Care

المصدر: Thorax, 4, 67, 289-295
Thorax, 67, 289-95
Thorax, 67(4), 289-295. BMJ Publishing Group
Vernooij-van Langen, A M M, Loeber, J G, Elvers, B, Triepels, R H, Gille, J J P, van der Ploeg, C P B, Reijntjens, S, Dompeling, E & Dankert-Roelse, J E 2012, ' Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study ', Thorax, vol. 67, no. 4, pp. 289-295 . https://doi.org/10.1136/thoraxjnl-2011-200730Test
Thorax, 67, 4, pp. 289-95

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pediatrics, Cystic Fibrosis, Pancreatitis-Associated Proteins, Context (language use), Sensitivity and Specificity, behavioral disciplines and activities, Cystic fibrosis, Genomic disorders and inherited multi-system disorders [IGMD 3], Neonatal Screening, Clinical Protocols, Antigens, Neoplasm, Predictive Value of Tests, CH - Child Health, Internal medicine, Biomarkers, Tumor, medicine, Humans, Lectins, C-Type, Immunoreactive trypsinogen, Prospective Studies, Prospective cohort study, Netherlands, Newborn screening, Routine screening, medicine.diagnostic_test, business.industry, Significant difference, Infant, Newborn, medicine.disease, BSS - Behavioural and Societal Sciences, Health, Predictive value of tests, Mutation, Trypsinogen, Female, Healthy for Life, business, Healthy Living, psychological phenomena and processes, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::439c4463ec6920f15ea903a297c7d4a2Test
https://doi.org/10.1136/thoraxjnl-2011-200730Test

المؤلفون: Anna E. Martinez, Hans Scheffer, Lu Liu, Robert M.W. Hofstra, Patricia J.C. Dopping-Hepenstal, Anthonie J. van Essen, Jemima E. Mellerio, Peter C. van den Akker, Marcel F. Jonkman, John A. McGrath, Rowdy Meijer

المساهمون: University Medical Center Groningen [Groningen] (UMCG), St John's Institute of Dermatology, Great Ormond Street Hospital for Children [London] (GOSH), Radboud University Medical Center [Nijmegen], Department of Human Genetics [Nijmegen], Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Translational Immunology Groningen (TRIGR)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 48 (3), pp.160. ⟨10.1136/jmg.2010.082230⟩
JOURNAL OF MEDICAL GENETICS, 48(3), 160-167. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 3, pp. 160-7
Journal of Medical Genetics, 48, 160-7

مصطلحات موضوعية: Collagen Type VII, TRIPLE-HELIX, Adolescent, Genotype, TRANSGLUTAMINASE-1, Arginine, Bathing suit ichthyosis, Glycine, Mutation, Missense, Genes, Recessive, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Dermatology, Biology, medicine.disease_cause, Cohort Studies, Anchoring fibrils, Genetics, medicine, Humans, Missense mutation, Clinical genetics, Child, Genetic Association Studies, Genetics (clinical), Skin, Mutation, Splice site mutation, IDENTIFICATION, MOLECULAR-MECHANISMS, COL7A1 GENE, Infant, ANCHORING FIBRILS, Phenotype, Epidermolysis Bullosa Dystrophica, RECURRENT MUTATIONS, Amino Acid Substitution, Child, Preschool, BATHING SUIT ICHTHYOSIS, PHENOTYPE-GENOTYPE CORRELATIONS, SPLICE-SITE MUTATION

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce681ef6e80ccf9e9cb898b882d8b2Test
https://doi.org/10.1136/jmg.2010.082230Test

المؤلفون: S W W Feith, Peter J. F. M. Merkus, Thijs Hendriks, J M Kouwenberg, Anja Vaessen-Verberne, M Hekkelaan, J. C. De Jongste, Ruben Boogaard, F Smit, R Schornagel, W. C. J. Hop

المصدر: Thorax, 63, 2, pp. 141-6
Thorax, 63, 141-6

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, T cell, Inflammation, Severity of Illness Index, law.invention, Genomic disorders and inherited multi-system disorders [IGMD 3], Double-Blind Method, Antigen, law, Administration, Inhalation, medicine, Humans, Anti-Asthmatic Agents, Child, Asthma, Analysis of Variance, Deoxyribonucleases, Lung, business.industry, Nebulizers and Vaporizers, Respiratory disease, Deoxyribonuclease, medicine.disease, Recombinant Proteins, Surgery, Hospitalization, Treatment Outcome, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Acute Disease, Immunology, Recombinant DNA, Drug Therapy, Combination, Female, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4847cf85ff8cbaac3b616da86298b15Test
https://doi.org/10.1136/thx.2007.081703Test

المؤلفون: T. De Ravel, Marjolijn C.J. Jongmans, Livia Kapusta, Joris A. Veltman, Lisenka E.L.M. Vissers, B. B. A. De Vries, Han G. Brunner, C M A van Ravenswaaij, Dian Donnai, L. H. Hoefsloot, Annette F. Baas, A. Geurts van Kessel, K. van der Donk, Ronald J.C. Admiraal, J M van Hagen

المساهمون: Clinical sciences, Medical Genetics, Faculty of Law and Criminology

المصدر: Journal of Medical Genetics, 43, 306-14
Journal of Medical Genetics, 43, 4, pp. 306-14

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Germline mosaicism, Choanal atresia, medicine.disease_cause, CHARGE syndrome, Central Nervous System Diseases, Perception and Action [DCN 1], Heart, lung and circulation [UMCN 2.1], Child, Genetics (clinical), Genetics, Coloboma, Mutation, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, Functional imaging [IGMD 1], Central Nervous System Diseases/diagnosis, syndrome, Major gene, Hypoplasia, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Spinal Diseases, Original Article, Female, Spinal Diseases/diagnosis, Functional Neurogenomics [DCN 2], Heart Defects, Congenital, Adult, Abnormalities, Multiple/diagnosis, Adolescent, Child, preschool, Choanal Atresia/diagnosis, Coloboma/diagnosis, Vestibular Diseases/diagnosis, Gestational Age, Biology, Choanal Atresia, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Mouth Diseases/diagnosis, Genetic testing, Hereditary cancer and cancer-related syndromes [ONCOL 1], DNA Helicases/genetics, DNA Helicases, Infant, Newborn, Infant, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Heart Defects, Congenital/diagnosis, mutation, Mouth Diseases, DNA-Binding Proteins/genetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1fa8fcdb77f66933f35bb3288d610fTest
https://doi.org/10.1136/jmg.2005.036061Test

المؤلفون: Jayne Y. Hehir-Kwa, Nicole de Leeuw, B. Rodriguez-Santiago, Rolph Pfundt, Lisenka E.L.M. Vissers, Jan K. Buitelaar, Joris A. Veltman, Luis A. Pérez-Jurado

المصدر: Journal of Medical Genetics, 48, 11, pp. 776-8
Journal of Medical Genetics, 48, 776-8

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Gene Dosage, Perception and Actions Mental Health [DCN 1], Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Gene dosage, Paternal Age, Cohort Studies, Segmental Duplications, Genomic, Sex Factors, Polymorphism (computer science), Intellectual Disability, Molecular genetics, mental disorders, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Allele, Spermatogenesis, Alleles, Genetics (clinical), Netherlands, Oligonucleotide Array Sequence Analysis, Segmental duplication, medicine.disease, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05922609c351d0196b68b74e114cd4f8Test
https://doi.org/10.1136/jmedgenet-2011-100147Test

المؤلفون: Sascha Vermeer, B W M van Bon, Carlo M. Marcelis, R. Pfundt, N. de Leeuw, A.P.M. de Brouwer, Janneke H M Schuurs-Hoeijmakers, Bert B.A. de Vries

المصدر: Journal of Medical Genetics, 46, 421-3
Journal of Medical Genetics, 46, 6, pp. 421-3

مصطلحات موضوعية: Proband, Pregnancy, Pediatrics, medicine.medical_specialty, Genetics and epigenetic pathways of disease [NCMLS 6], business.industry, Birth weight, Occiput, Sister, Microdeletion syndrome, medicine.disease, Genomic disorders and inherited multi-system disorders [IGMD 3], medicine.anatomical_structure, Hypospadias, Failure to thrive, Genetics, medicine, medicine.symptom, business, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b52b6c2b94737ce25516402737c63cTest
https://doi.org/10.1136/jmg.2009.066910Test

المؤلفون: J.P.H. Drenth, Able Lawrence, Frans A. Hol, Amita Aggarwal

المصدر: Annals of the Rheumatic Diseases, 65, 12, pp. 1674-6
Annals of the Rheumatic Diseases, 65, 1674-6

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Abdominal pain, medicine.medical_treatment, Immunology, Membrane transport and intracellular motility [NCMLS 5], Familial Mediterranean fever, General Biochemistry, Genetics and Molecular Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Rheumatology, Laparotomy, medicine, Immunology and Allergy, Letters, Molecular gastro-enterology and hepatology [IGMD 2], Sibling, biology, business.industry, Hypergammaglobulinemia, Mevalonate kinase, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Vomiting, biology.protein, Polyarthritis, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3677e45a75f1a0d92f7ca6a2ffd1c6Test
https://doi.org/10.1136/ard.2006.054494Test