المؤلفون: Foroutan A., Haghshenas S., Bhai P., Levy M. A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A. -S.

المساهمون: Foroutan A., Haghshenas S., Bhai P., Levy M.A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A.-S.

مصطلحات موضوعية: Abnormalities, Multiple, Craniofacial Abnormalitie, DNA methylation, Epigenetic, Episignature, Facie, Growth Disorder, Human, Hypertrichosi, Intellectual disability, KMT2A gene, Neurodevelopmental disorder, Phenotype, Wiedemann–Steiner syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35163737; info:eu-repo/semantics/altIdentifier/wos/WOS:000759997000001; volume:23; issue:3; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10447/547094Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123938038

الإتاحة: https://doi.org/10.3390/ijms23031815Test
http://hdl.handle.net/10447/547094Test

المؤلفون: Krzyzewska, I. M., Maas, S. M., Henneman, P., Lip, K. v d, Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ikeda, H., Jacquemont, M., Kim, H-G, Labalme, A., Lewis, S. M. E., Lesca, G., Madrigal, Gloria, Mahida, S., Matsumoto, N., Rabionet, R., Rajcan-Separovic, E., Qiao, Y., Sadikovic, B., Saitsu, H., Sweetser, D. A., Alders, M., Mannens, M. M. A. M.

المصدر: Krzyzewska , I M , Maas , S M , Henneman , P , Lip , K V D , Venema , A , Baranano , K , Chassevent , A , Aref-Eshghi , E , van Essen , A J , Fukuda , T , Ikeda , H , Jacquemont , M , Kim , H-G , Labalme , A , Lewis , S M E , Lesca , G , Madrigal , G , Mahida , S , Matsumoto , N , Rabionet , R , Rajcan-Separovic , E , Qiao , Y , Sadikovic , B ....

مصطلحات موضوعية: BECKWITH-WIEDEMANN SYNDROME, INTELLECTUAL DISABILITY, MICRODELETION, 12Q24.31, DIAGNOSIS, VARIANTS, LINKING, SETD1B

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/8dbc4257-97ca-43e9-a954-365b34738250Test

الإتاحة: https://doi.org/10.1186/s13148-019-0749-3Test
https://hdl.handle.net/11370/8dbc4257-97ca-43e9-a954-365b34738250Test
https://research.rug.nl/en/publications/8dbc4257-97ca-43e9-a954-365b34738250Test
https://pure.rug.nl/ws/files/109925654/s13148_019_0749_3.pdfTest

المؤلفون: Reijnders, M.R.F. (Margot R.F.), Miller, K.A. (Kerry A.), Alvi, M. (Mohsan), Goos, J.A.C. (Jacqueline), Lees, M.M. (Melissa), de Burca, A. (Anna), Henderson, A. (Alex), Kraus, A. (Alison), Mikat, B. (Barbara), Vries, B. (Boukje) de, Isidor, B. (Bertrand), Kerr, B. (Bronwyn), Marcelis, C.L.M. (Carlo), Schluth-Bolard, C. (Caroline), Deshpande, C. (Charu), Ruivenkamp, C.A. (Claudia), Wieczorek, D. (Dagmar), Baralle, D. (Diana), Blair, E.M. (Ed), Engels, H. (Hartmut), Lüdecke, H.-J. (Hermann-Josef), Eason, J. (Jacqueline), Santen, G.W.E. (Gijs), Clayton-Smith, J., Chandler, K. (Kate), Tatton-Brown, K. (Katrina), Payne, K. (Katelyn), Helbig, K. (Katherine), Radtke, K. (Kelly), Nugent, K.M. (Kimberly M.), Cremer, K. (Kirsten), Strom, T.M. (Tim), Bird, L.M. (Lynne), Sinnema, M. (Margje), Bitner-Glindzicz, M. (M.), Dooren, M.F. (Marieke) van, Alders, M. (Mariëlle), Koopmans, M. (Marije), Brick, L. (Lauren), Kozenko, M. (Mariya), Harline, M.L. (Megan L.), Klaassens, M. (Merel), Steinraths, M. (Michelle), Cooper, N. (Nicola), Edery, P. (Patrick), Yap, P. (Patrick), Terhal, P. (Paulien), van der Spek, P.J. (Peter J.), Lakeman, P. (Phillis), Taylor, R.L. (Rachel L.), Littlejohn, R.O. (Rebecca Okashah), Pfundt, R. (Rolph), Mercimek-Andrews, S. (Saadet), Stegmann, A.P.A. (Alexander P.A.), Kant, S.G. (Sarina), McLean, S. (Scott), Joss, S. (Shelagh), Swagemakers, S.M.A. (Sigrid), Douzgou, S. (Sofia), Wall, S.A. (Steven), Küry, S. (Sébastien), Calpena, E. (Eduardo), Koelling, N. (Nils), McGowan, S.J. (Simon), Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene M.J.), Nellaker, C. (Christoffer), Brunner, H.G., Wilkie, A.O.M. (Andrew)

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: facial averaging, haploinsufficiency, intellectual disability, kinase, Tousled-like

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/107127Test; urn:hdl:1765/107127

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.014Test
http://repub.eur.nl/pub/107127Test

المؤلفون: Laan, L. van der, Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M.A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M.L., Vissers, L.E.L.M., Koene, S., Ruivenkamp, C., Hoffer, M.J.V., Wieczorek, D., Bramswig, N.C., Herget, T., Gonzalez, V.L., Santos-Simarro, F., Torring, P.M., Denomme-Pichon, A.S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P.Y., Misra-Isrie, M., Esch, H. van, Mannens, M.M.A.M., Sadikovic, B., Haelst, M.M. van, Henneman, P.

المصدر: International Journal of Molecular Sciences

مصطلحات موضوعية: TRIP12, Clark-Baraitser syndrome, intellectual disability, DNA methylation, episignature

وصف الملف: application/pdf

العلاقة: lumc-id: 176346978; https://hdl.handle.net/1887/3561446Test

الإتاحة: https://doi.org/10.3390/ijms232213664Test
https://hdl.handle.net/1887/3561446Test

المؤلفون: Duncan, A.R. (Anna R.), Vitobello, A. (Antonio), Collins, S.C. (Stephan C.), Vancollie, V.E. (Valerie E.), Lelliott, C.J. (Christopher J.), Rodan, L. (Lance), Shi, J. (Jiahai), Seman, A.R. (Ann R.), Agolini, E. (Emanuele), Novelli, A. (Antonio), Prontera, P. (Paolo), Guillen Sacoto, M.J. (Maria J.), Santiago-Sim, T. (Teresa), Trimouille, A. (Aurélien), Goizet, C. (Cyril), Nizon, M. (Mathilde), Bruel, A.-L. (Ange-Line), Philippe, C. (Christophe), Grant, P.E. (Patricia E.), Wojcik, M.H. (Monica H.), Stoler, J. (Joan), Genetti, C.A. (Casie A.), Dooren, M.F. (Marieke) van, Maas, S.M. (Saskia), Alders, M. (Mariëlle), Faivre, L. (Laurence), Sorlin, A. (Arthur), Yoon, G. (Grace), Yalcin, B. (Binnaz), Agrawal, P.B. (Pankaj B.)

المصدر: American Journal of Human Genetics vol. 107 no. 6, pp. 1170-1177

مصطلحات موضوعية: agenesis of the corpus callosum, dysmorphic hippocampi, global developmental delay, heterozygous variant, intellectual disability, JMJD2B, KDM4B, neurodevelopmental disorder

وصف الملف: application/pdf

العلاقة: https://repub.eur.nl/pub/132482Test; urn:hdl:1765/132482

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.001Test
https://repub.eur.nl/pub/132482Test

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