المؤلفون: Saskia J. Gischler, Rene M. H. Wijnen, Dick Tibboel, Hanneke IJsselstijn, Monique H M van der Cammen-van Zijp, Leontien Toussaint, Marlous J. Madderom

المساهمون: Pediatric Surgery

المصدر: Archives of Disease in Childhood. Fetal and Neonatal Edition, 98(4), F316-F322. BMJ Publishing Group
Archives of Disease in Childhood : Fetal and Neonatal Edition, 98, 4, pp. F316-22
Archives of Disease in Childhood : Fetal and Neonatal Edition, 98, F316-22

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, medicine.medical_treatment, Developmental Disabilities, Health Status, Intelligence, Psychological intervention, Severity of Illness Index, Genomic disorders and inherited multi-system disorders [IGMD 3], Child Development, Extracorporeal Membrane Oxygenation, Risk Factors, Intensive care, Extracorporeal membrane oxygenation, Medicine, Humans, Child, Netherlands, Hernia, Diaphragmatic, Memory Disorders, business.industry, Learning Disabilities, Obstetrics and Gynecology, Congenital diaphragmatic hernia, Social Behavior Disorders, General Medicine, University hospital, medicine.disease, School performance, surgical procedures, operative, Pediatrics, Perinatology and Child Health, Female, Outcomes research, business, Hernias, Diaphragmatic, Congenital, Psychomotor Performance, Cohort study, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117d65527e6c9af4c0b64b0f2a24bc3fTest
https://doi.org/10.1136/archdischild-2012-303020Test

المؤلفون: Ben C.J. Hamel, Yvonne J. Vos, Nicolette S. den Hollander, Mariet W. Elting, Jenneke A. Stegeman, Merel C. van Maarle, Ana Maria Fortuna, Lone Sunde, Irene Stolte-Dijkstra, Hermien E. K. de Walle, Annelies M. ten Berge, Martijn Bruining, Connie Schrander-Stumpel, Robert M.W. Hofstra, Krista K. Bos

المساهمون: Faculteit der Geneeskunde, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Other Research, Human Genetics, Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Journal of Medical Genetics, 47(3), 169-175. BMJ Publishing Group
Journal of Medical Genetics, 47, 169-75
Journal of medical genetics, 47(3), 169-175. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 47(3), 169-175. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47(3), 169-75
Journal of Medical Genetics, 47, 3, pp. 169-75
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, Ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L, Stolte-Dijkstra, I, Schrander-Stumpel, C T R M & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-75 . https://doi.org/10.1136/jmg.2009.071688Test
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L E M, Stolte-Dijkstra, I, Schrander-Stumpel, C & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-175 . https://doi.org/10.1136/jmg.2009.071688Test

مصطلحات موضوعية: Male, Oncology, EXPRESSION, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Genetic Counseling, Neural Cell Adhesion Molecule L1, Germline mosaicism, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Germline mutation, MISSENSE MUTATION, Internal medicine, Genotype, Genetics, medicine, Humans, Missense mutation, L1CAM GENE, PRENATAL-DIAGNOSIS, Child, L1 syndrome, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Base Sequence, Mosaicism, Infant, Newborn, Infant, Genetic Diseases, X-Linked, Syndrome, NEPHROGENIC DIABETES-INSIPIDUS, MASA-SYNDROME, Child, Preschool, CELL-ADHESION MOLECULE, Practice Guidelines as Topic, Mutation (genetic algorithm), COMPLICATED SPASTIC PARAPLEGIA, HIRSCHSPRUNGS-DISEASE, Mutation testing, X-LINKED HYDROCEPHALUS, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d6cb42a30581e42d1412d9c36349978Test
https://doi.org/10.1136/jmg.2009.071688Test

المؤلفون: Schmidts, M., Arts, H.H., Bongers, E.M., Yap, Z., Oud, M.M., Antony, D., Duijkers, L., Emes, R.D., Stalker, J., Yntema, J.B., Plagnol, V., Hoischen, A., Gilissen, C., Forsythe, E., Lausch, E., Veltman, J.A., Roeleveld, N., Superti-Furga, A., Kutkowska-Kazmierczak, A., Kamsteeg, E.J., Elçioglu, N., van Maarle, M.C., Graul-Neumann, L.M., Devriendt, K., Smithson, S.F., Wellesley, D., Verbeek, N.E., Hennekam, R.C., Kayserili, H., Scambler, P.J., Beales, P.L., UK10K, Knoers, N.V., Roepman, R., Mitchison, H.M.

المساهمون: Schmidts, Miriam, Arts, Heleen H., Bongers, Ernie M. H. F., Yap, Zhimin, Oud, Machteld M., Antony, Dinu, Duijkers, Lonneke, Emes, Richard D., Stalker, Jim, Yntema, Jan-Bart L., Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A., Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elcioglu, Nursel, van Maarle, Merel C., Graul-Neumann, Luitgard M., Devriendt, Koenraad, Smithson, Sarah F., Wellesley, Diana, Verbeek, Nienke E., Hennekam, Raoul C. M., Kayserili, Hulya, Scambler, Peter J., Beales, Philip L., Knoers, Nine V. A. M., Roepman, Ronald, Mitchison, Hannah M., Human Genetics, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, UK10K

المصدر: Journal of medical genetics, 50(5), 309-323. BMJ Publishing Group
Journal of Medical Genetics; Vol 50
Journal of Medical Genetics
Journal of Medical Genetics, 50, 309-223
JOURNAL OF MEDICAL GENETICS, 50(5), 309-323. BMJ PUBLISHING GROUP
Journal of Medical Genetics, vol. 50, no. 5, pp. 309-323
Journal of Medical Genetics, 50, 5, pp. 309-223

مصطلحات موضوعية: Exome/genetics, Cytoplasmic Dyneins, Models, Molecular, Genetics and epigenetic pathways of disease [NCMLS 6], Protein Conformation, Bioinformatics, medicine.disease_cause, 0302 clinical medicine, Models, Genetic Screening/Counselling, Missense mutation, Developmental, Exome, CRYSTAL-STRUCTURE, Diagnostics, Genetics (clinical), Exome sequencing, Renal disorder [IGMD 9], Genetics, Microscopy, 0303 health sciences, Mutation, Polydactyly, Developmental Defects, DEFECTS, Polymorphism, Single Nucleotide/genetics, 3. Good health, Gene Components, Ellis-Van Creveld Syndrome/genetics, PELVIC-PHALANGEAL DYSTROPHY, Single Nucleotide/genetics, Sequence Analysis, Mutation/genetics, Ellis-Van Creveld Syndrome, Molecular Sequence Data, IFT, Biology, DYNEIN MOTOR DOMAIN, Polymorphism, Single Nucleotide, Fluorescence, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular Genetics, 03 medical and health sciences, Intraflagellar transport, CYTOPLASMIC DYNEIN, medicine, RETROGRADE INTRAFLAGELLAR TRANSPORT, Humans, Polymorphism, 030304 developmental biology, Clinical Genetics, Base Sequence, Genetic heterogeneity, Molecular, DNA, Sequence Analysis, DNA, Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, LIGHT INTERMEDIATE CHAIN, Microscopy, Fluorescence, Cytoplasmic Dyneins/chemistry, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], PRIMARY CILIARY DYSKINESIA, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], CAENORHABDITIS-ELEGANS, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56f4ecae0d50d08988921f47f5a41b9Test
https://hdl.handle.net/11424/245562Test

المؤلفون: J.H.F.M. de Bruin, Wietske Kievit, J.H.J.M. van Krieken, Rolf H. Sijmons, M.J.L. Ligtenberg, Hans F. A. Vasen, Jan H. Kleibeuker, Nicoline Hoogerbrugge, Eddy M. M. Adang, Fokko M. Nagengast, Theo J.M. Ruers, Johan L. Severens

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Gut, 54(1), 97-102. BMJ PUBLISHING GROUP
Gut, 54, 97-102
Gut, 54, 1, pp. 97-102

مصطلحات موضوعية: Oncology, Genetics and epigenetic pathways of disease [NCMLS 6], Colorectal cancer, Cost effectiveness, MICROSATELLITE INSTABILITY, Cost-Benefit Analysis, Aetiology, screening and detection [ONCOL 5], ECONOMIC-EVALUATION, FAMILY-HISTORY, Immune Regulation [NCMLS 2], Family history, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Netherlands, education.field_of_study, medicine.diagnostic_test, MISMATCH REPAIR GENES, Gastroenterology, food and beverages, NONPOLYPOSIS COLORECTAL-CANCER, Health Care Costs, CARRIERS, Colorectal Neoplasms, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Age-related aspects of cancer [ONCOL 2], CARCINOMA, Population, Sensitivity and Specificity, Genomic Instability, Quality of Care [ONCOL 4], Decision Support Techniques, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], Diagnosis, Differential, Translational research [ONCOL 3], Interventional oncology [UMCN 1.5], Internal medicine, medicine, Humans, Genetic Testing, Molecular gastro-enterology and hepatology [IGMD 2], education, neoplasms, Genetic testing, Colorectal Cancer, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, MUTATIONS, Effective Hospital Care [EBP 2], Cancer, Microsatellite instability, nutritional and metabolic diseases, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Surgery, MSH2, Evaluation of complex medical interventions [NCEBP 2], Mutation, Life expectancy, Feasibility Studies, business, Microsatellite Repeats, SELECTION-STRATEGIES

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c995ecd668efd930f444782c7d2dfdd1Test
https://doi.org/10.1136/gut.2004.039123Test

المؤلفون: Timothy R D J Radstake, Dora Pascual-Salcedo, Miguel A. González-Gay, Benjamín Fernández-Gutiérrez, María Gómez-García, Elena Urcelay, Alejandro Balsa, Javier Martín, Manuel Díaz-Rubio, Jezabel Varadé, Norberto Ortego-Centeno, Rogelio Palomino-Morales, Torsten Witte, Antonio Iglesias, Marieke J H Coenen

المصدر: Annals of the Rheumatic Diseases, 70, 711-2
Annals of the Rheumatic Diseases, 70, 4, pp. 711-2
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: medicine.medical_specialty, animal structures, Immunology, Arthritis, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Autoimmune Diseases, Arthritis, Rheumatoid, Genomic disorders and inherited multi-system disorders [IGMD 3], Rheumatology, Internal medicine, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Gene, Autoimmune disease, business.industry, Experimental autoimmune encephalomyelitis, Translational research Immune Regulation [ONCOL 3], medicine.disease, Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], Rheumatoid arthritis, Knockout mouse, Genes, rel, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f679f43457db87723a74f2b2636f9379Test
http://hdl.handle.net/10261/54063Test

المؤلفون: Geert Vandeweyer, Willy M. Nillesen, Sven Parkel, P Finnemore, John C. K. Barber, F Kooy, Bart Loeys, K Lachlan, John A. Crolla, Carl Baker, Nicola Foulds, N. Van der Aa, Viv K. Maloney, Luis A. Pérez-Jurado, B. B. A. De Vries, Tjitske Kleefstra, R. Pfundt, T.J.L. de Ravel, Ernie M.H.F. Bongers, Jeffrey W. Innis, Samantha J. L. Knight, L E Connell, Joris Vermeesch, Ants Kurg, Franki Speleman, S Huang, M van Kalmthout, Heather C Mefford, Marcelo A. Nobrega, Han G. Brunner, Christopher Geoffrey Woods, N. de Leeuw, B W M van Bon, Marco Fichera, Catherine Mercer, Clara Serra-Juhé, Sandra Janssens, C M A van Ravenswaaij, Ingrid Simonic, Björn Menten, Geert Mortier, Maurizio Elia, Alexandre C. Pereira, Lionel Willatt, J. P. Fryns, B Castle, Andrew J. Sharp, Katrin Õunap, A Oostra, Santina Reitano, Corrado Romano, David A. Koolen, H. Stewart, K Smith, Evan E. Eichler

المساهمون: Clinical sciences, Medical Genetics, Erasmushogeschool Brussel, Chemical Engineering and Industrial Chemistry, Faculty of Engineering, Vrije Universiteit Brussel, Faculty of Psychology and Educational Sciences, Faculty of Law and Criminology

المصدر: JOURNAL OF MEDICAL GENETICS, 46(8), 511-523. BMJ PUBLISHING GROUP
JOURNAL OF MEDICAL GENETICS
Journal of medical genetics
Journal of Medical Genetics, 46, 8, pp. 511-23
Journal of Medical Genetics, 46, 511-23

مصطلحات موضوعية: Proband, Male, LINKAGE DISEQUILIBRIUM, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosome Disorders, Disease, Bioinformatics, CHROMOSOME 22Q11, Epilepsy, PRADER-WILLI, Chromosome Disorders/genetics, Gene Duplication, Gene duplication, HUMAN GENOME, Copy-number variation, MOLECULAR CHARACTERIZATION, Child, Genetics (clinical), Segmental duplication, Oligonucleotide Array Sequence Analysis, Genetics, Chromosomes, Human, Pair 15/genetics, ABSENT-RADIUS SYNDROME, Microdeletion syndrome, syndrome, Pedigree, Female, pregnancy, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Child, preschool, SEGMENTAL DUPLICATIONS, COPY-NUMBER VARIATION, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, medicine, Humans, Clinical significance, Chromosome Aberrations, Chromosomes, Human, Pair 15, Infant, Newborn, Infant, medicine.disease, Intellectual Disability/genetics, Human medicine, ARRAY-CGH, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d06febf35b11ebd2e18af4936f3b546Test
https://hdl.handle.net/20.500.14017/5a89518b-61dd-4618-b6d6-30e671f9cca0Test