المؤلفون: Levy, M.A., Beck, D.B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M.C., Keren, B., Moore, H.W., Oegema, R., Giltay, J.C., Simon, M., Jaarsveld, R.H. van, Bos, J., Haelst, M. van, Motazacker, M.M., Boon, E.M.J., Santen, G.W.E., Ruivenkamp, C.A.L., Alders, M., Luperchio, T.R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G.B., Bonasio, R., Doheny, K.F., Stevenson, R.E., Banka, S., Sadikovic, B., Fahrner, J.A.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::102aaccfc9e0e30c236824fffdae6a2dTest
https://hdl.handle.net/1887/3276857Test

المؤلفون: Aref-Eshghi, E., Kerkhof, J., Pedro, V., DI France, Groupe, Barat-Houari, M., Ruiz-Pallares, N., Alders, M., Mannens, M., Henneman, P., Hennekam, R.C., Ciolf, A., Pizzi, S., Tartaglia, M., Campeau, P.M., Rousseau, J., Levy, M.A., Brick, L., Kozenko, M., Balci, T.B., Siu, V.M., Stuart, A., Kadour, M., Masters, J., Takano, K., Kleefstra, T., de Leeuw, N., Field, M., Shaw, M., Gecz, J., Merla, G., Ainsworth, P.J., Lin, H., Rodenhiser, D.I., Friez, M.J., Tedder, M., DuPont, J.A., Stevenson, R.E., Skinner, S.A., Schwartz, C.E., Genevieve, D., Sadikovic, B.

المصدر: Paediatrics Publications

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1548::d6853c010b026f6be7c8bf46d92a130fTest
https://ir.lib.uwo.ca/context/paedpub/article/1560/viewcontent/s41431_020_00740_6.pdfTest

المؤلفون: Alders, M., de Beer, J.A.A., Bengtsson, T., Keilman, N.

المساهمون: Netherlands Interdisciplinary Demographic Institute (NIDI)

المصدر: Demographic Research Monographs ISBN: 9783030050740
Old and new perspectives on mortality forecasting, 123-143
STARTPAGE=123;ENDPAGE=143;TITLE=Old and new perspectives on mortality forecasting

مصطلحات موضوعية: education.field_of_study, Population forecast, Age structure, Mortality forecasting, media_common.quotation_subject, Population, Monte Carlo method, Fertility, Order (exchange), Econometrics, Economics, Probability distribution, education, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7dd44f2ee069ffe8ce460d945c1121Test
https://doi.org/10.1007/978-3-030-05075-7_11Test

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., 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: 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: Alders, M, Mendola, A, Ades, L, Al Gazali, L, Bellini, C, Dallapiccola, B, Edery, P, Frank, U, Hornshuh, F, Huisman, Sander, Jagadeesh, S, Kayserili, H, Keng, WT, Lev, D, Prada, CE, Sampson, JR, Schmidtke, J, Shashi, V, Bever, Yolande, Van der Aa, N, Verhagen, Judith, Verheij, JBGM, Vikkula, M, Hennekam, RCM

المساهمون: Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Human Genetics, Graduate School, Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics, Surgery, Clinical Genetics

المصدر: Molecular syndromology, 4(3), 107-113. S. Karger AG
Molecular Syndromology, 107-113. Karger
STARTPAGE=107;ENDPAGE=113;ISSN=1661-8769;TITLE=Molecular Syndromology

مصطلحات موضوعية: Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d4b71f6c5a2d50af8e560dfc78b92002Test
https://europepmc.org/articles/PMC3638933Test/