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1دورية أكاديمية
المؤلفون: Bonora E., Chakrabarty S., Kellaris G., Tsutsumi M., Bianco F., Bergamini C., Ullah F., Isidori F., Liparulo I., Diquigiovanni C., Masin L., Rizzardi N., Cratere M. G., Boschetti E., Papa V., Maresca A., Cenacchi G., Casadio R., Martelli P., Matera I., Ceccherini I., Fato R., Raiola G., Arrigo S., Signa S., Sementa A. R., Severino M., Striano P., Fiorillo C., Goto T., Uchino S., Oyazato Y., Nakamura H., Mishra S. K., Yeh Y. -S., Kato T., Nozu K., Tanboon J., Morioka I., Nishino I., Toda T., Goto Y. -I., Ohtake A., Kosaki K., Yamaguchi Y., Nonaka I., Iijima K., Mimaki M., Kurahashi H., Raams A., Macinnes A., Alders M., Engelen M., Linthorst G., De Koning T., Den Dunnen W., Dijkstra G., Van Spaendonck K., Van Gent D. C., Aronica E. M., Picco P., Carelli V., Seri M., Katsanis N., Duijkers F. A. M., Taniguchi-Ikeda M., De Giorgio R.
المساهمون: E. Bonora, S. Chakrabarty, G. Kellari, M. Tsutsumi, F. Bianco, C. Bergamini, F. Ullah, F. Isidori, I. Liparulo, C. Diquigiovanni, L. Masin, N. Rizzardi, M.G. Cratere, E. Boschetti, V. Papa, A. Maresca, G. Cenacchi, R. Casadio, P. Martelli, I. Matera, I. Ceccherini, R. Fato, G. Raiola, S. Arrigo, S. Signa, A.R. Sementa, M. Severino, P. Striano, C. Fiorillo, T. Goto, S. Uchino, Y. Oyazato, H. Nakamura, S.K. Mishra, Y.-. Yeh, T. Kato, K. Nozu, J. Tanboon, I. Morioka, I. Nishino, T. Toda, Y.-. Goto, A. Ohtake, K. Kosaki, Y. Yamaguchi, I. Nonaka, K. Iijima, M. Mimaki, H. Kurahashi, A. Raam, A. Macinne, M. Alder, M. Engelen, G. Linthorst, T. De Koning, W. Den Dunnen, G. Dijkstra, K. Van Spaendonck, D.C. Van Gent, E.M. Aronica, P. Picco, V. Carelli, M. Seri, N. Katsani, F.A.M. Duijker, M. Taniguchi-Ikeda, R. De Giorgio
مصطلحات موضوعية: CIPO, LIG3, MNGIE, mtDNA repair, mtDNA replication, Animal, DNA Ligase ATP, Female, Gastrointestinal Disease, Gastrointestinal Motility, Human, Male, Mitochondrial Encephalomyopathie, Mutation, Pedigree, Poly-ADP-Ribose Binding Protein, Zebrafish, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33855352; info:eu-repo/semantics/altIdentifier/wos/WOS:000710927500031; volume:144; issue:5; firstpage:1451; lastpage:1466; numberofpages:16; journal:BRAIN; http://hdl.handle.net/2434/898474Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107848423
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2دورية أكاديمية
المؤلفون: Valente F. M., Sparago A., Freschi A., Hill-Harfe K., Maas S. M., Frints S. G. M., Alders M., Pignata L., Franzese M., Angelini C., Carli D., Mussa A., Gazzin A., Gabbarini F., Acurzio B., Ferrero G. B., Bliek J., Williams C. A., Riccio A., Cerrato F.
المساهمون: Valente F.M., Sparago A., Freschi A., Hill-Harfe K., Maas S.M., Frints S.G.M., Alders M., Pignata L., Franzese M., Angelini C., Carli D., Mussa A., Gazzin A., Gabbarini F., Acurzio B., Ferrero G.B., Bliek J., Williams C.A., Riccio A., Cerrato F.
مصطلحات موضوعية: Beckwith–Wiedemann syndrome, DNA methylation, genomic imprinting, imprinting disorder, long QT syndrome, Adolescent, Adult, Animal, Beckwith-Wiedemann Syndrome, Child, Preschool, Chromosomes, Human, Pair 11, Female, Infant, Intron, KCNQ1 Potassium Channel, Male, Maternal Inheritance, Mice, Pedigree, Young Adult
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30635621; info:eu-repo/semantics/altIdentifier/wos/WOS:000478784800020; volume:21; issue:8; firstpage:1808; lastpage:1820; numberofpages:13; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1729390Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059914542; http://www.nature.com/gim/index.htmlTest
الإتاحة: https://doi.org/10.1038/s41436-018-0416-7Test
http://hdl.handle.net/2318/1729390Test
http://www.nature.com/gim/index.htmlTest -
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المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM
المصدر: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6مصطلحات موضوعية: Adult, Male, Adolescent, kinase, Messenger, Inheritance Patterns, Translocation, Medical and Health Sciences, Cell Line, Young Adult, Genetic, Clinical Research, Loss of Function Mutation, Genetics, 2.1 Biological and endogenous factors, Humans, Aetiology, Child, Preschool, Genetic Association Studies, Genetics & Heredity, Tousled-like, Base Sequence, Human Genome, Neurosciences, Facies, Infant, Deciphering Developmental Disorders Study, Biological Sciences, Brain Disorders, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, RNA, Female, Protein Kinases, facial averaging, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3Test
http://hdl.handle.net/1887/79379Test -
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المؤلفون: Reijnders, M.R.F., Miller, K.A., Alvi, M., Goos, J.A.C., Lees, M.M., Burca, A. de, Henderson, A., Kraus, A., Mikat, B., Vries, B.B.A. de, Isidor, B., Kerr, B., Marcelis, C.L.M., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C.A.L., Wieczorek, D., Baralle, D., Blair, E.M., Engels, H., Ludecke, H.J., Eason, J., Santen, G.W.E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K., Radtke, K., Nugent, K.M., Cremer, K., Strom, T.M., Bird, L.M., Sinnema, M., Bitner-Glindzicz, M., Dooren, M.F. van, Alders, M., Koopmans, M., Brick, L., Kozenko, M., Harline, M.L., Klaassens, M., Steinraths, M., Cooper, N.S., Edery, P., Yap, P., Terhal, P.A., Spek, P.J. van der, Lakeman, P., Taylor, R.L., Littlejohn, R.O., Pfundt, R.P., Mercimek-Andrews, S., Stegmann, A.P.A., Kant, S.G., McLean, S., Joss, S., Swagemakers, S.M.A., Douzgou, S., Wall, S.A., Kury, S., Calpena, E., Koelling, N., McGowan, S.J., Twigg, S.R.F., Mathijssen, I.M.J., Nellaker, C., Brunner, H.G., Wilkie, A.O.M.
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 102, 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
American Journal of Human Genetics, 102(6), 1195-1203. Cell Press
American Journal of Human Genetics, 102, 6, pp. 1195-1203مصطلحات موضوعية: Tousled-like, Facial Averaging, Haploinsufficiency, Intellectual Disability, Kinase, Adult, Male, Adolescent, kinase, viruses, Inheritance Patterns, Medizin, Translocation, Genetic, Cell Line, Young Adult, Loss of Function Mutation, Report, Humans, RNA, Messenger, Child, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Facies, Infant, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, Female, Protein Kinases, facial averaging, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7228083bae90c5039f1024da2c884c2eTest
https://www.ncbi.nlm.nih.gov/pubmed/29861108Test -
5دورية أكاديمية
المؤلفون: Menke L. A., van Belzen M. J., Alders M., Cristofoli F., Ehmke N., Fergelot P., Foster A., Gerkes E. H., Hoffer M. J. V., Horn D., Kant S. G., Lacombe D., Leon E., Maas S. M., Melis D., Muto V., Park S., Peeters H., Peters D. J. M., Pfundt R., van Ravenswaaij-Arts C. M. A., Tartaglia M., Hennekam R. C. M.
المساهمون: Menke, L. A., van Belzen, M. J., Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., Foster, A., Gerkes, E. H., Hoffer, M. J. V., Horn, D., Kant, S. G., Lacombe, D., Leon, E., Maas, S. M., Melis, D., Muto, V., Park, S., Peeters, H., Peters, D. J. M., Pfundt, R., van Ravenswaaij-Arts, C. M. A., Tartaglia, M., Hennekam, R. C. M.
مصطلحات موضوعية: case serie, clinical feature, CREBBP, exon 30, exon 31, genotype–phenotype correlation, intellectual disability, mutation, RSTS, Rubinstein–Taybi syndrome, syndrome, whole exome sequencing, Adolescent, Adult, Allele, Amino Acid Sequence, CREB-Binding Protein, Child, Preschool, Exome, Exon, Facie, Female, Genotype, High-Throughput Nucleotide Sequencing, Human, Infant, Male, Missense, Rubinstein-Taybi Syndrome
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27311832; info:eu-repo/semantics/altIdentifier/wos/WOS:000383612200026; volume:170; issue:10; firstpage:2681; lastpage:2693; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11386/4760491Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84977583323
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المؤلفون: Menke, L.A., Belzen, M.J. van, Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., Foster, A., Gerkes, E.H., Hoffer, M.J.V., Horn, D., Kant, S.G., Lacombe, D., Leon, E., Maas, S.M., Melis, D., Muto, V., Park, S.M., Peeters, H., Peters, D.J.M., Pfundt, R., Ravenswaaij-Arts, C.M.A. van, Tartaglia, M., Hennekam, R.C.M., DDD Study
المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), ANS - Complex Trait Genetics, Paediatric Genetics, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Human Genetics, APH - Amsterdam Public Health
المصدر: American Journal of Medical Genetics. Part A, 170(10), 2681-2693. Wiley
American Journal of Medical Genetics. Part A, 170, 2681-93
American journal of medical genetics. Part A, 170A(10), 2681-2693. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 10, pp. 2681-93
American Journal of Medical Genetics Part A, 170(10), 2681-2693مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, clinical features, medicine.disease_cause, Bioinformatics, DISEASE, whole exome sequencing, Exon, DOMAIN, Missense mutation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, MISSENSE, case series, High-Throughput Nucleotide Sequencing, genotype–phenotype correlation, Exons, CREBBP, syndrome, CREB-Binding Protein, Phenotype, intellectual disability, Child, Preschool, exon 30, exon 31, mutation, RSTS, Rubinstein–Taybi syndrome, Adolescent, Adult, Alleles, Amino Acid Sequence, Facies, Female, Genotype, Humans, Infant, Mutation, Missense, Rubinstein-Taybi Syndrome, Young Adult, Genetic Association Studies, medicine.symptom, genotype-phenotype correlation, CBP, ZZ, Short stature, 03 medical and health sciences, medicine, otorhinolaryngologic diseases, Preschool, Rubinstein-Taybi syndrome, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, medicine.disease, 030104 developmental biology, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ac671804b167f7c758f7408aa860c6Test
https://research.rug.nl/en/publications/7efb5ad6-e0d2-497a-b453-f3c9956610feTest -
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المؤلفون: Heinen, C.A., Losekoot, M., Sun, Y., Watson, P.J., Fairall, L., Joustra, S.D., Zwaveling-Soonawala, N., Oostdijk, W., Akker, E.L.T. van den, Alders, M., Santen, G.W.E., Rijn, R.R. van, Dreschler, W.A., Surovtseva, O.V., Biermasz, N.R., Hennekam, R.C., Wit, J.M., Schwabe, J.W.R., Boelen, A., Fliers, E., Trotsenburg, A.S.P. van
المساهمون: ANS - Complex Trait Genetics, Paediatric Endocrinology, Other Research, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, Radiology and Nuclear Medicine, APH - Amsterdam Public Health, Ear, Nose and Throat, Paediatric Genetics, Endocrinology Laboratory, Endocrinology, Pediatrics
المصدر: Journal of clinical endocrinology and metabolism, 101(12), 4564-4573. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 101(12), 4564-4573
The Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 101(12), 4564-4573. Endocrine Societyمصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Hypothalamus, Infant, Original Articles, Middle Aged, Pedigree, Thyroxine, Young Adult, Hypothyroidism, Pituitary Gland, Mutation, Humans, Female, RNA, Messenger, Transducin, Child, Hearing Loss, hormones, hormone substitutes, and hormone antagonists
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e4f1ddb491a2ecef3583eecce3c307b2Test
https://pure.amc.nl/en/publications/mutations-in-tbl1x-are-associated-with-central-hypothyroidismTest(a2e82681-5159-48a7-a525-180518dfc2ec).html -
8دورية أكاديمية
المؤلفون: Postma, A V, Alders, M, Sylva, M, Bilardo, C M, Pajkrt, E, van Rijn, R R, Schulte-Merker, S, Bulk, S, Stefanovic, S, Ilgun, A, Barnett, P, Mannens, M M A M, Moorman, A F M, Oostra, R J, van Maarle, M C
المصدر: Postma , A V , Alders , M , Sylva , M , Bilardo , C M , Pajkrt , E , van Rijn , R R , Schulte-Merker , S , Bulk , S , Stefanovic , S , Ilgun , A , Barnett , P , Mannens , M M A M , Moorman , A F M , Oostra , R J & van Maarle , M C 2014 , ' Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal ....
مصطلحات موضوعية: Abnormalities, Multiple, Amino Acid Sequence, Base Sequence, Cell Line, Tumor, Cell Proliferation, Chromosomes, Human, Pair 6, Comparative Genomic Hybridization, Consanguinity, Female, Fetal Proteins, Genetic Association Studies, Homozygote, Humans, Infant, Newborn, Male, Mutation, Missense, Notochord, Ossification, Heterotopic, Pedigree, Protein Binding, Protein Transport, Sacrum, Spine
الإتاحة: https://doi.org/10.1136/jmedgenet-2013-102001Test
https://doi.org/20.500.11755/5aa1c32f-5452-4303-b60d-71d6bed5e022Test
https://pure.knaw.nl/portal/en/publications/5aa1c32f-5452-4303-b60d-71d6bed5e022Test
https://hdl.handle.net/20.500.11755/5aa1c32f-5452-4303-b60d-71d6bed5e022Test -
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المؤلفون: Fernlund, E., Lundin, C., Hertervig, E., Kongstad, O., Alders, M., Platonov, P.
مصطلحات موضوعية: Adult, Andersen Syndrome, Male, Adolescent, Middle Aged, Defibrillators, Implantable, Heart Arrest, Diagnosis, Differential, Electrocardiography, Young Adult, Phenotype, cardiovascular system, Tachycardia, Ventricular, Humans, Female, Hereditary Arrhythmia Corner, Genetic Testing, Potassium Channels, Inwardly Rectifying, Child, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7d31cacefea9a58b4d2b588a4d07768fTest
https://europepmc.org/articles/PMC6932293Test/ -
10دورية أكاديمية
المؤلفون: Van Langen, I.M., Birnie, E., Alders, M., Jongbloed, Rosalie J.E., Le Marec, H., Wilde, A.A.M.
المصدر: Van Langen , I M , Birnie , E , Alders , M , Jongbloed , R J E , Le Marec , H & Wilde , A A M 2003 , ' The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome [1] ' , Journal of Medical Genetics , vol. 40 , no. 2 , pp. 141-145 . https://doi.org/10.1136/jmg.40.2.141Test
مصطلحات موضوعية: adolescent, adult, clinical article, correlation analysis, electrocardiogram, female, genetic screening, genotype, human, letter, long QT syndrome, male, mutational analysis, phenotype, priority journal
الإتاحة: https://doi.org/10.1136/jmg.40.2.141Test
https://hdl.handle.net/11370/b784b093-645f-4def-9396-6d3bb12f0adeTest
https://research.rug.nl/en/publications/b784b093-645f-4def-9396-6d3bb12f0adeTest