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

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 6

مصطلحات 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

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. 1195-1203

مصطلحات 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

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

الإتاحة: https://doi.org/10.1002/ajmg.a.37800Test
http://hdl.handle.net/11386/4760491Test

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), 2681-2693

مصطلحات 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

المؤلفون: Sousa S. B., Hennekam R. C., Abdul-Rahman O., Alders M., Azzarello-Burri S., Bottani A., Bowdin S., Castori M., Cormier-Daire V., Deardorff M., Del Campo Casanelles M., Devriendt K., Fauth C., Filges I., Fryer A., Garavelli L., Gillessen-Kaesback G., Hall B., Hirofumi O., Holder S., Hoyer J., Jenkins L., Klapeki J., Krajewska-Walasek M., Kosho T., Kuechler A., MacDermot K., Magee A., Mari F., Mathieu-Dramard M., Napier M., Perez-Jurado L. A., Picard F. M., Morin G., Murday V., Pilch J., Ronan A., Rosser E., Santen G. W. E., Scott R., Selicorni A., Shannon N., Santos-Simarro F., Stewart H., van den Boogaard M. -J., Vilain C., Vermeesch J., Vogels A., Wakeling E., Wieczorek D., Yesil G., Zuffardi O., Zweier C.

المساهمون: Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.

مصطلحات موضوعية: BAF (SWI/SNF) complex, Genotype, Intellectual disability, Natural history, Nicolaides-baraitser syndrome, Phenotype, SMARCA2, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Epilepsy, Face, Facie, Foot Deformities, Congenital, Genetic Association Studie, Hair, Human, Hypotrichosi, Skin Abnormalitie, Transcription Factor, Young Adult, Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25169058; info:eu-repo/semantics/altIdentifier/wos/WOS:000342343200007; volume:166; issue:3; firstpage:302; lastpage:314; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/11365/1078710Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908617685; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1552-4876

الإتاحة: https://doi.org/10.1002/ajmg.c.31409Test
http://hdl.handle.net/11365/1078710Test

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 Society

مصطلحات 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

المؤلفون: Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. (3)

مصطلحات موضوعية: Foot Deformities, Adult, Nicolaides-baraitser syndrome, Genotype, Adolescent, Foot Deformities, Congenital, Natural history, Hypotrichosis, Congenital, Young Adult, Intellectual Disability, SMARCA2, Humans, Abnormalities, Multiple, Preschool, Child, Genetic Association Studies, Epilepsy, BAF (SWI/SNF) complex, Intellectual disability, Phenotype, Child, Preschool, Face, Facies, Hair, Skin Abnormalities, Transcription Factors, Mutation, Abnormalities, Multiple

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d5d02eb4f0616e19e9792d85dfaf201Test
https://pubmed.ncbi.nlm.nih.gov/25169058Test

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/

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

العلاقة: https://research.rug.nl/en/publications/b784b093-645f-4def-9396-6d3bb12f0adeTest

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