المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder

المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SAS

مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
https://hdl.handle.net/1871/42986Test

المؤلفون: Kornelia Neveling, Stephanie Hipp, Hans Scheffer, Michael Kwint, Joris A. Veltman, Susanne Kohl, Bernd Wissinger, Tzipora C Falik-Zaccai, Stef J.F. Letteboer, Eberhart Zrenner, Ellen A.W. Blokland, Anneke I. den Hollander, Frans P.M. Cremers, Alejandro Estrada-Cuzcano, B. Jeroen Klevering, Eyal Banin, Rob W.J. Collin, Dorus A. Mans, Ramon A.C. van Huet, Sabine Gijsen, Ygal Rotenstreich, Dror Sharon, Ronald Roepman

المصدر: The American Journal of Human Genetics; Vol 90
American Journal of Human Genetics, 90, 102-9
American Journal of Human Genetics, 90, 1, pp. 102-9

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Retinal Pigment Epithelium, Biology, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Exon, Consanguinity, 0302 clinical medicine, Bardet–Biedl syndrome, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Report, Retinitis pigmentosa, Retinal Dystrophies, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Age of Onset, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Retinal pigment epithelium, Base Sequence, Chromosome Mapping, Infant, Proteins, Exons, medicine.disease, Disease gene identification, Introns, medicine.anatomical_structure, Evaluation of complex medical interventions [NCEBP 2], Child, Preschool, Mutation, 030221 ophthalmology & optometry, Female, 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___::ff0330fc97286bbd571e86c34d8f3906Test

المؤلفون: Erik-Jan Kamsteeg, Vítor Tedim Cruz, Ruth Geraldes, Paula Coutinho, Jorge Pinto-Basto, Georgina Neves, Ana Margarida Lopes, Han G. Brunner, Pureza Dias, Eva Brandão, Jorge Sequeiros, Isabel Pavão Martins, Isabel Alonso, Maria Conceição Pereira, José Leal Loureiro

المصدر: Genetics in Medicine, 14, 1, pp. 143-51
Genetics in Medicine, 14, 143-51

مصطلحات موضوعية: Adult, Male, Genome evolution, Adolescent, Genotype, Hereditary spastic paraplegia, Molecular Sequence Data, Alu element, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Chromosome Breakpoints, Young Adult, Exon, Alu Elements, Gene Order, Spastic, medicine, Humans, Amino Acid Sequence, Allele, Child, Alleles, Genetics (clinical), Sequence Deletion, Genetics, Base Sequence, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Infant, Proteins, Exons, Middle Aged, medicine.disease, Pedigree, nervous system diseases, Child, Preschool, Mutation, Female, 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___::ee1673c4a78ebefb8ad3cc7e21bb613cTest
https://doi.org/10.1038/gim.2011.7Test

المؤلفون: Albert Tenesa, Michael A. Horan, Igor Rudan, Barbara Franke, Caroline Hayward, Sita H. Vermeulen, Michelle Luciano, Christel M. Middeldorp, Nicholas D. Hastie, Jennifer E. Huffman, Dorret I. Boomsma, Harry Campbell, Pieter E. Vos, Annette M. Hartmann, David J. Porteous, John M. Starr, Bettina Konte, Jan K. Buitelaar, Tessel E. Galesloot, Gail Davies, William E R Ollier, Dan Rujescu, James F. Wilson, Andrew C. Heath, Pamela A. F. Madden, Lina Zgaga, Alejandro Arias-Vásquez, Nicholas G. Martin, Xiayi Ke, Joost G. E. Janzing, Anna A. E. Vinkhuyzen, Ina Giegling, Grant W. Montgomery, Antony Payton, Ian J. Deary, Maaike Verhagen, Veronique Vitart, Jouke-Jan Hottenga, Alan F. Wright, Sanja Belak Kovačević, Ozren Polasek, Neil Pendleton, H. Konnerth, Gonneke Willemsen

المساهمون: Child Psychiatry, Biological Psychology, Neuroscience Campus Amsterdam - Anxiety & Depression, EMGO+ - Mental Health

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics, 159(6), 684-695. Wiley-Liss Inc.
Luciano, M, Huffman, J E, Arias-Vásquez, A, Vinkhuyzen, A A E, Middeldorp, C M, Giegling, I, Payton, A, Davies, G, Zgaga, L, Janzing, J, Ke, X, Galesloot, T, Hartmann, A M, Ollier, W, Tenesa, A, Hayward, C, Verhagen, M, Montgomery, G W, Hottenga, J-J, Konte, B, Starr, J M, Vitart, V, Vos, P E, Madden, P A F, Willemsen, G, Konnerth, H, Horan, M A, Porteous, D J, Campbell, H, Vermeulen, S H, Heath, A C, Wright, A, Polasek, O, Kovacevic, S B, Hastie, N D, Franke, B, Boomsma, D I, Martin, N G, Rujescu, D, Wilson, J F, Buitelaar, J, Pendleton, N, Rudan, I & Deary, I J 2012, ' Genome-wide association uncovers shared genetic effects among personality traits and mood states ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 159B, no. 6, pp. 684-695 . https://doi.org/10.1002/ajmg.b.32072Test
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 159B, 684-95
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 159B, 6, pp. 684-695
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(6), 684-695. Wiley-Liss Inc.
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 159B, 684-695
Luciano, M, Huffman, J E, Arias-Vasquez, A, Vinkhuyzen, A A E, Middeldorp, C M, Giegling, I, Payton, A, Davies, G E, Zgaga, L, Janzing, J G, Ke, X Y, Galesloot, T, Hartmann, A M, Ollier, W, Tenesa, A, Hayward, C, Verhagen, M, Montgomery, G W, Hottenga, J J, Konte, B, Starr, J M, Vitart, V, Vos, P E, Madden, P A F, Willemsen, G, Konnerth, H, Horan, M A, Porteous, D J, Campbell, H, Vermeulen, S H, Heath, A C, Wright, A, Polasek, O, Kovacevic, S B, Hastie, N, Franke, B, Boomsma, D I, Martin, N G, Rujescu, D, Wilson, J F, Buitelaar, J, Pendleton, N, Rudan, I & Deary, I J 2012, ' Genome-Wide Association Uncovers Shared Genetic Effects Among Personality Traits and Mood States ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 159B, no. 6, pp. 684-695 . https://doi.org/10.1002/ajmg.b.32072Test
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 159B, 6, pp. 684-95

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), Neurotic Disorders, Genome-wide association study, DCN PAC - Perception action and control, Anxiety, Neuropsychological Tests, Cohort Studies, Extraversion, Psychological, 0302 clinical medicine, Big Five personality traits, Genetics (clinical), media_common, Aged, 80 and over, 0303 health sciences, Depression, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Middle Aged, Neuroticism, Psychiatry and Mental health, Major depressive disorder, Female, Personality, Adult, Adolescent, DCN MP - Plasticity and memory, media_common.quotation_subject, Biology, Molecular epidemiology Iron metabolism [NCEBP 1], Mental health [NCEBP 9], Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Molecular epidemiology [NCEBP 1], Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Humans, Genetic Predisposition to Disease, DCN PAC - Perception action and control NCEBP 9 - Mental health, Bipolar disorder, DCN NN - Brain networks and neuronal communication, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Aged, 030304 developmental biology, Extraversion and introversion, Mood Disorders, Reproducibility of Results, medicine.disease, Mood, Developmental Psychopathology, 030217 neurology & neurosurgery, Genome-Wide Association Study, Demography

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::713899f9e6aca20699bc5bf2c6831272Test
https://hdl.handle.net/2066/116809Test

المؤلفون: Toplak, Maggie E., Sorge, Geoff B., Flora, David B., Chen, Wai, Banaschewski, Tobias, Buitelaar, Jan K, Ebstein, Richard, Eisenberg, Jacques, Franke, Barbara, Gill, Michael, Miranda, Ana, Oades, Robert D., Roeyers, Herbert, Rothenberger, Aribert, Sergeant, Joseph A, Sonuga-Barke, Edmund J.S., Steinhausen, Hans-Christoph, Thompson, Margaret, Tannock, Rosemary, Asherson, Philip, Faraone, Stephen V.

المساهمون: University of Zurich, Toplak, Maggie E, Clinical Neuropsychology

المصدر: Toplak, M E, Sorge, G B, Flora, D B, Chen, W, Banaschewski, T, Buitelaar, J, Ebstein, R, Eisenberg, J, Franke, B, Gill, M, Miranda, A, Oades, R D, Roeyers, H, Rothenberger, A, Sergeant, J, Sonuga-Barke, E, Steinhausen, H-C, Thompson, M, Tannock, R, Asherson, P & Faraone, S V 2012, ' The hierarchical factor model of ADHD: Invariant across age and national groupings? ', Journal of Child Psychology & Psychiatry, vol. 53, no. 3, pp. 292-303 . https://doi.org/10.1111/j.1469-7610.2011.02500.xTest
Toplak, M E, Sorge, G B, Flora, D B, Chen, W, Banaschewski, T, Buitelaar, J, Ebstein, R, Eisenberg, J, Franke, B, Gill, M, Miranda, A, Oades, R D, Roeyers, H, Rothenberger, A, Sergeant, J A, Sonuga-Barke, E J S, Steinhausen, H C, Thompson, M, Tannock, R, Asherson, P & Faraone, S V 2012, ' The hierarchical factor model of ADHD: invariant across age and national groupings? ', Journal of Child Psychology and Psychiatry, vol. 53, no. 3, pp. 292-303 . https://doi.org/10.1111/j.1469-7610.2011.02500.xTest
Journal of Child Psychology and Psychiatry and Allied Disciplines, 53, 292-303
Journal of Child Psychology and Psychiatry and Allied Disciplines, 53, 3, pp. 292-303
Journal of Child Psychology and Psychiatry, 53(3), 292-303. Wiley-Blackwell

مصطلحات موضوعية: Male, Parents, Adolescent, Medizin, 610 Medicine & health, Models, Psychological, behavioral disciplines and activities, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 2738 Psychiatry and Mental Health, Age Distribution, Interview, Psychological, mental disorders, Humans, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, 2735 Pediatrics, Perinatology and Child Health, DCN PAC - Perception action and control NCEBP 9 - Mental health, Israel, Child, 3204 Developmental and Educational Psychology, Siblings, 10058 Department of Child and Adolescent Psychiatry, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Faculty, Europe, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Female, Factor Analysis, Statistical

وصف الملف: Toplak_et_al_Hierarchical_factor_model_of_ADHD.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2746decf02d3d45925a9c072bc74873Test
https://hdl.handle.net/2066/109833Test

المؤلفون: Barbara Franke, Ruud Smolders, Guillén Fernández, Mark Rijpkema

المساهمون: Graduate School

المصدر: Brain and Behavior, 2, 726-31
Brain and Behavior, 2, 6, pp. 726-31
Brain and behavior, 2(6), 726-731. John Wiley and Sons Inc.
Brain and Behavior

مصطلحات موضوعية: DCN MP - Plasticity and memory, rs6265, bimanual, Corpus callosum, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, single nucleotide polymorphism, Val66Met, Neurotrophic factors, Motor system, Genotype, genetics, Original Research, 030304 developmental biology, 0303 health sciences, Brain morphometry, Translational research Immune Regulation [ONCOL 3], Motor control, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], motor, BDNF, nervous system, Preilowski's task, Motor learning, Psychology, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5666bfc6057e4745e94a617fe7f99684Test
https://hdl.handle.net/2066/110357Test

المؤلفون: Paun, C.C., Pijl, B.J., Siemiatkowska, A.M., Collin, R.W.J., Cremers, F.P., Hoyng, C.B., den Hollander, A.I.

المصدر: Molecular Vision, 18, 2447-53
Molecular Vision, 18, pp. 2447-53

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], eye diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::009e95ef8f2da64233fa7f45ac16f91dTest
https://hdl.handle.net/2066/111029Test

المؤلفون: Bernd Kirchhof, Johannes P. H. van de Ven, Carel B. Hoyng, Robert K. Koenekoop, Amer Omar, Dzenita Smailhodzic, Alice Yang Zhang, Sascha Fauser, Anneke I. den Hollander, Angela Kwestro, Philipp S. Muether, John C. Chen, Jan E.E. Keunen, B. Jeroen Klevering

المصدر: Ophthalmology, 119, 2304-11
Ophthalmology, 119, 11, pp. 2304-11

مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, medicine.medical_specialty, Genotype, genetic structures, Visual Acuity, Angiogenesis Inhibitors, Single-nucleotide polymorphism, Antibodies, Monoclonal, Humanized, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Cohort Studies, Risk Factors, Ranibizumab, Ophthalmology, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], medicine, Humans, Age of Onset, Fluorescein Angiography, Alleles, Aged, Aged, 80 and over, business.industry, Standard treatment, Proteins, Diabetic retinopathy, Middle Aged, Macular degeneration, medicine.disease, Vascular Endothelial Growth Factor Receptor-2, Frizzled Receptors, eye diseases, Low Density Lipoprotein Receptor-Related Protein-5, Pharmacogenetics, Complement Factor H, Intravitreal Injections, Wet Macular Degeneration, Female, sense organs, Age of onset, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Tomography, Optical Coherence, Cohort study, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3af55bef306a2d2f3ffcf78d698eafbTest
https://hdl.handle.net/2066/110749Test

المؤلفون: Karin W. Littink, Frans C. C. Riemslag, Linda Visser, Mary J. van Schooneveld, Anneke I. den Hollander, Maria M. van Genderen, L. Ingeborgh van den Born, Jan E.E. Keunen, Bjorn Bakker, Marijke N. Zonneveld, Frans P.M. Cremers

المساهمون: Netherlands Institute for Neuroscience (NIN), AII - Amsterdam institute for Infection and Immunity, Ophthalmology

المصدر: Ophthalmology, 119, 1899-1906. Elsevier B.V.
Ophthalmology, 119(9), 1899-1906. Elsevier Inc.
Ophthalmology, 119, 9, pp. 1899-906
Ophthalmology, 119, 1899-906

مصطلحات موضوعية: Adult, Candidate gene, medicine.medical_specialty, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, genetic structures, DNA Mutational Analysis, Visual Acuity, Fundus (eye), Compound heterozygosity, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Retina, Frameshift mutation, Young Adult, Cone dystrophy, Retinal Diseases, Ophthalmology, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], medicine, Electroretinography, Humans, Fluorescein Angiography, Child, Frameshift Mutation, Aged, Genetics, medicine.diagnostic_test, business.industry, Homozygote, Fundus photography, Middle Aged, medicine.disease, Disease gene identification, Alcohol Oxidoreductases, Visual Field Tests, Visual Fields, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Carrier Proteins, Acyltransferases, Tomography, Optical Coherence, Retinopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fe480acf77f8efa4ee21f6970f0dd2Test
https://doi.org/10.1016/j.ophtha.2012.02.037Test

المؤلفون: Nicole de Leeuw, Bert B.A. de Vries, Jayne Y. Hehir-Kwa, Helger G. Yntema, Willy M. Nillesen, Tjitske Kleefstra, Arjan P.M. de Brouwer, Rolph Pfundt, Marjolein H. Willemsen, Hans van Bokhoven

المصدر: European Journal of Medical Genetics, 55, 586-98
European Journal of Medical Genetics, 55, 11, pp. 586-98
European Journal of Medical Genetics; Vol 55

مصطلحات موضوعية: Male, Adolescent, DNA Copy Number Variations, Bioinformatics, Congenital Abnormalities, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, Medicine, Humans, Clinical significance, Copy-number variation, Child, Genetics (clinical), X chromosome, 030304 developmental biology, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Chromosomes, Human, X, business.industry, Genome, Human, 030305 genetics & heredity, Infant, Cognition, General Medicine, Effective primary care and public health [NCEBP 7], medicine.disease, 3. Good health, Large cohort, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Child, Preschool, Cohort, Autism, Female, business, Cognition Disorders, 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___::92f232dd454c2f571e1999f86fe30b29Test
https://doi.org/10.1016/j.ejmg.2012.05.001Test