المؤلفون: M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/ef19cbdf0ac74c62b3854c93fa439f5eTest

المؤلفون: A. J. A. Lambeck, C. M. A. van Ravenswaaij-Arts, E. H. Schölvinck

المصدر: Genetic Syndromes ISBN: 9783319668161

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534675bea74048021afa7e68cb3314beTest
https://doi.org/10.1007/978-3-319-66816-1_26-2Test

المؤلفون: H. Van Parys, E. Wyverkens, V. Provoost, A. Ravelingien, I. Raes, S. Somers, I. Stuyver, P. De Sutter, G. Pennings, A. Buysse, V. S. Anttila, M. Salevaara, A. M. Suikkari, D. R. Listijono, S. Mooney, M. G. Chapman, U. Res Muravec, S. Pusica, M. Lomsek, M. Cizek Sajko, S. Parames, L. Semiao-Francisco, H. Sato, J. Ueno, L. van den Wijngaard, M. H. Mochtar, H. van Dam, F. van der Veen, M. van Wely, I. A. P. Derks-Smeets, J. J. G. Habets, A. Tibben, V. C. G. Tjan-Heijnen, M. Meijer-Hoogeveen, J. P. M. Geraedts, R. van Golde, E. Gomez-Garcia, C. E. M. de Die-Smulders, L. A. D. M. van Osch, C. M. Kets, S. Gullo, Z. Donarelli, G. L. Coco, A. Marino, A. Volpes, F. Sammartano, A. Allegra, J. Nekkebroeck, H. Tournaye, D. Stoop, G. Lo Coco, F. Coffaro, D. G. Diaz, M. A. Gonzalez, M. Tirado, S. Chamorro, P. Dolz, M. A. Gil, A. Ballesteros, E. Velilla, C. Castello, N. Moina, M. Lopez-Teijon, C. H. Y. Chan, C. L. W. Chan, M. K. H. Leong, I. K. M. Cheung, T. H. Y. Chan, B. N. L. Hui, A. J. C. M. van Dongen, A. G. Huppelschoten, J. A. M. Kremer, W. L. D. M. Nelen, C. M. Verhaak, H. G. Sun, K. H. Lee, I. H. Park, S. G. Kim, J. H. Lee, Y. Y. Kim, H. J. Kim, J. D. Cho, Y. J. Yoo, V. Frokjaer, A. Pinborg, E. C. Larsen, M. Heede, D. S. Stenbaek, S. Henningsson, A. P. Nielsen, C. Svarer, K. K. Holst, G. M. Knudsen, M. Emery, L. DeJonckheere, S. Rothen, M. Wisard, M. Germond, M. Toftager, L. V. Hjordt, P. S. Jensen, K. Holst, T. Holland, T. Bryndorf, J. Bogstad, P. Hornnes, V. G. Frokjaer, L. M. N. Dornelles, F. MacCallum, R. C. S. Lopes, C. A. Piccinini, E. P. Passos, C. Bruegge, P. Thorn, K. Daniels, S. Imrie, V. Jadva, S. Golombok, Y. Arens, G. De Krom, R. J. T. Van Golde, E. Coonen, C. M. A. Van Ravenswaaij-Arts, J. L. H. Evers, C. E. M. De Die-Smulders, G. Ghazeeri, J. Awwad, A. Fakih, H. Abbas, S. Harajly, L. Tawidian, F. Maalouf, D. Ajdukovic, M. Pibernik-Okanovic, M. S. Alebic, G. Baccino, C. Calatayud, E. Ricciarelli, E. R. H. de Miguel, K. Wierckx, H. Verstraelen, L. Van Glabeke, E. Van den Abbeel, J. Gerris, G. T'Sjoen, B. Monica, R. N. Calonge, P. C. Peregrin, R. Cserepes, J. Kollar, T. Wischmann, A. Bugan, C. Pinkard, C. Harrison, L. Bunting, J. Boivin, B. Fulford, N. Theusink-Kirchhoff, C. M. A. van Ravenswaaij-Arts, M. K. Bakker, C. Volks, Z. Papaligoura, D. Papadatou, T. H. Bellali, S. Jarvholm, M. Broberg, A. Thurin-Kjellberg, G. Weitzman, T. M. Van Der Putten-Landau, S. Chudnoff, E. Panagopoulou, B. Tarlatzis, V. Tamhankar, G. L. Jones, P. Magill, J. D. Skull, W. Ledger, H. W. Hvidman, I. O. Specht, K. T. Schmidt, A. N. Andersen, T. Freeman, S. Zadeh, V. Smith, L. H. R. Whitaker, J. Reid, J. Wilson, H. O. D. Critchley, A. W. Horne, B. Peterson, M. Pirritano, L. Schmidt, H. Volgsten, N. Hudson, L. Culley, C. Law, E. Denny, H. Mitchell, M. Baumgarten, N. Raine-Fenning, L. Blake, K. H. Kim

المصدر: Human Reproduction. 28:i261-i282

مصطلحات موضوعية: Infertility, Medical education, Reproductive Medicine, Health professionals, Obstetrics and gynaecology, business.industry, Rehabilitation, Professional development, Obstetrics and Gynecology, Medicine, business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::78319ca8589afc477c69f19360bef3f3Test
https://doi.org/10.1093/humrep/det218Test

المؤلفون: J I M, Egger, R J, Zwanenburg, C M A, van Ravenswaaij-Arts, T, Kleefstra, W M A, Verhoeven

المصدر: Genes, brain, and behavior. 15(4)

مصطلحات موضوعية: Adult, Male, Phenotype, Psychopathology, Chromosomes, Human, Pair 22, Humans, Chromosome Disorders, Female, Nerve Tissue Proteins, Chromosome Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d4f43fbbf81d3892660735b591d297c0Test
https://pubmed.ncbi.nlm.nih.gov/26824576Test

المؤلفون: E. C. Dul, C. M. A. van Ravenswaaij-Arts, H. Groen, J. van Echten-Arends, J. A. Land, Y. Tyulenev, V. Naumenko, L. Kurilo, L. Shileiko, A. Segal, R. Klimova, A. Kushch, J. Ribas-Maynou, A. Garcia-Peiro, C. Abad, M. J. Amengual, J. Benet, J. Navarro, A. Colasante, A. M. Lobascio, F. Scarselli, M. G. Minasi, E. Alviggi, P. Rubino, V. Casciani, R. Pena, M. T. Varricchio, K. Litwicka, S. Ferrero, D. Zavaglia, G. Franco, Z. P. Nagy, E. Greco, L. Romany, M. Meseguer, S. Garcia-Herrero, A. Pellicer, N. Garrido, A. Dam, A. Pijnenburg, J. C. Hendriks, J. R. Westphal, L. Ramos, J. A. M. Kremer, F. Eertmans, V. Bogaert, B. Puype, W. Geisler, C. Clusmann, I. Klopsch, T. Strowitzki, W. Eggert-Kruse, R. Maettner, E. Isachenko, V. Isachenko, E. Strehler, K. Sterzik, G. Band, I. Madgar, H. Brietbart, Z. Naor, J. S. Cunha-Filho, C. A. Souza, V. G. Krebs, K. D. Santos, W. J. Koff, A. Stein, I. Hammoud, M. Albert, M. Bergere, M. Bailly, F. Boitrelle, F. Vialard, R. Wainer, V. Izard, J. Selva, P. Cohen - Bacrie, S. Belloc, J. de mouzon, M. Cohen-Bacrie, S. Alvarez, A. M. Junca, M. Dumont, S. Douard, N. Prisant, K. Tomita, S. Hashimoto, Y. Akamatsu, M. Satoh, R. Mori, T. Inoue, Y. Ohnishi, K. Ito, Y. Nakaoka, Y. Morimoto, V. J. H. Smith, K. K. Ahuja, F. Atig, M. Raffa, M. T. Sfar, A. Saad, M. Ajina, D. P. A. F. Braga, G. Halpern, R. C. S. Figueira, A. S. Setti, A. Iaconelli Jr., E. Borges Jr., G. S. Medeiros, E. B. Pasqualotto, F. F. Pasqualotto, M. Nadalini, N. Tarozzi, M. Di Santo, A. Borini, C. Lopez-Fernandez, F. Arroyo, P. Caballero, R. Nunez-Calonge, J. L. Fernandez, J. Gosalvez, A. Gosalbez, S. Cortes, K. Zikopoulos, L. Lazaros, G. Vartholomatos, A. Kaponis, G. Makrydimas, N. Plachouras, N. Sofikitis, S. Kalantaridou, E. Hatzi, I. Georgiou, J. de Mouzon, E. Amar, P. Cohen-Bacrie, M. L. Vuillaume, F. Brugnon, C. Artonne, L. Janny, H. Pons-Rejraji, J. Fedder, L. Bosco, G. Ruvolo, A. M. Bruccoleri, M. Manno, M. C. Roccheri, E. Cittadini, I. Bochev, P. Gavrilov, S. Kyurkchiev, A. Shterev, G. Carlomagno, M. Colone, R. A. Condorelli, A. Stringaro, A. E. Calogero, J. Zakova, M. Kralikova, I. Crha, P. Ventruba, J. Melounova, M. Matejovicova, M. Vodova, E. Lousova, M. Sanchez Toledo, C. Alvarez LLeo, C. Garcia Garrido, M. Resta Serra, L. L. Belmonte Andujar, G. Gonzalez de Merlo, M. Pohanka, M. Huser, I. Amiri, J. Karimi, M. T. Goodarzi, H. Tavilani, A. Filannino, M. C. Magli, E. Boudjema, A. Crippa, A. P. Ferraretti, L. Gianaroli, F. Robles, H. Huang, D. J. Yao, H. J. Huang, J. R. Li, S. K. Fan, M. L. Wang, S. Yung-Kuei, S. Amer, A. Mahran, J. Darne, R. Shaw, E. Borghi, C. Cetera, U. Shukla, D. Ogutu, B. Deval, M. Jansa, M. Savvas, N. Narvekar, P. Houska, A. L. Dackland, L. Bjorndahl, U. Kvist, L. Muzii, B. Barboni, L. Samanta, S. Kar, S. A. Yakovenko, M. N. Troshina, B. K. Rutman, S. A. Dyakonov, E. Holmes, C. Feijo, S. Verza Junior, S. C. Esteves, C. L. Berta, A. M. Caille, S. A. Ghersevich, C. Zumoffen, M. J. Munuce, M. San Celestino, D. Agudo, M. Alonso, P. Sanjurjo, D. Becerra, F. Bronet, J. A. Garcia-Velasco, A. Pacheco, R. Lafuente, G. Lopez, M. A. Checa, R. Carreras, M. Brassesco, M. Oneta, V. Savasi, B. Parrilla, D. Guarneri, A. Laureti, F. Pagano, I. Cetin, E. Ekwurtzel, G. Morgante, P. Piomboni, A. Stendardi, F. Serafini, V. De Leo, R. Focarelli, M. Benkhalifa, J. De Mouzon, F. Entezami, A. Junca, J. J. De Mouzon, A. Mangiarini, E. Capitanio, A. Paffoni, L. Restelli, C. Guarneri, C. Scarduelli, G. Ragni, K. Harrison, J. Irving, N. Martin, D. Sherrin, A. Yazdani, C. Almeida, S. Correia, E. Rocha, A. Alves, M. Cunha, L. Ferraz, S. Silva, M. Sousa, A. Barros, A. Perdrix, A. Travers, J. P. Milazzo, F. Clatot, N. Mousset-Simeon, B. Mace, N. Rives, H. S. Clarke, A. Callow, D. Saxton, A. A. Pacey, O. Sapir, G. Oron, A. Ben-Haroush, R. Garor, D. Feldberg, H. Pinkas, A. Wertheimer, B. Fisch, E. Palacios, M. C. Gonzalvo, A. Clavero, J. P. Ramirez, A. Rosales, J. Mozas, J. A. Castilla, J. Mugica, O. Ramon, A. Valdivia, A. Exposito, L. Casis, R. Matorras, R. Bongers, F. Gottardo, M. Zitzmann, S. Kliesch, T. Cordes, A. Kamischke, A. Schultze-Mosgau, N. Buendgen, K. Diedrich, G. Griesinger, L. Crisol, F. Aspichueta, M. L. Hernandez, J. I. Ruiz-Sanz, R. Mendoza, A. A. Sanchez-Tusie, A. Bermudez, P. Lopez, G. C. Churchill, C. L. Trevino, I. Maldonado, J. Dabbah

المصدر: Human Reproduction. 26:i123-i148

مصطلحات موضوعية: medicine.medical_specialty, Reproductive Medicine, Rehabilitation, medicine, Obstetrics and Gynecology, Medical physics, Session (computer science), Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e20a6c3d476f5418c541678e445e4d75Test
https://doi.org/10.1093/humrep/26.s1.75Test

المؤلفون: Trijnie Dijkhuizen, C. M. A. van Ravenswaaij, Patrick Rump, Joke B. G. M. Verheij, Birgit Sikkema-Raddatz, Yvonne J. Vos, Henny H. Lemmink

المصدر: Clinical Genetics, 74(5), 455-462. Wiley

مصطلحات موضوعية: Male, medicine.medical_specialty, Microcephaly, Adolescent, RING CHROMOSOME-15, Germline mosaicism, Biology, Short stature, Finger Phalanges, Chromosome 15, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, COMPARATIVE GENOMIC HYBRIDIZATION, microcephaly, Child, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomes, Human, Pair 15, DEVELOPMENTAL DELAY, Mosaicism, I RECEPTOR GENE, Brachydactyly, brachydactyly, Nucleic Acid Hybridization, Syndrome, medicine.disease, Subtelomere, chromosome 15, CONGENITAL DIAPHRAGMATIC-HERNIA, TERMINAL DELETION, Developmental disorder, short stature, Endocrinology, Child, Preschool, CANDIDATE REGION, subtelomere, Female, BRACHYDACTYLY TYPE A1, Chromosome Deletion, medicine.symptom, DISTAL LONG ARM, Comparative genomic hybridization, GROWTH-RETARDATION

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ffab5ff287d1d7277bf68c9efd64b9Test
https://doi.org/10.1111/j.1399-0004.2008.01064.xTest

المؤلفون: T. De Ravel, Marjolijn C.J. Jongmans, Livia Kapusta, Joris A. Veltman, Lisenka E.L.M. Vissers, B. B. A. De Vries, Han G. Brunner, C M A van Ravenswaaij, Dian Donnai, L. H. Hoefsloot, Annette F. Baas, A. Geurts van Kessel, K. van der Donk, Ronald J.C. Admiraal, J M van Hagen

المساهمون: Clinical sciences, Medical Genetics, Faculty of Law and Criminology

المصدر: Journal of Medical Genetics, 43, 306-14
Journal of Medical Genetics, 43, 4, pp. 306-14

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Germline mosaicism, Choanal atresia, medicine.disease_cause, CHARGE syndrome, Central Nervous System Diseases, Perception and Action [DCN 1], Heart, lung and circulation [UMCN 2.1], Child, Genetics (clinical), Genetics, Coloboma, Mutation, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, Functional imaging [IGMD 1], Central Nervous System Diseases/diagnosis, syndrome, Major gene, Hypoplasia, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Spinal Diseases, Original Article, Female, Spinal Diseases/diagnosis, Functional Neurogenomics [DCN 2], Heart Defects, Congenital, Adult, Abnormalities, Multiple/diagnosis, Adolescent, Child, preschool, Choanal Atresia/diagnosis, Coloboma/diagnosis, Vestibular Diseases/diagnosis, Gestational Age, Biology, Choanal Atresia, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Mouth Diseases/diagnosis, Genetic testing, Hereditary cancer and cancer-related syndromes [ONCOL 1], DNA Helicases/genetics, DNA Helicases, Infant, Newborn, Infant, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Heart Defects, Congenital/diagnosis, mutation, Mouth Diseases, DNA-Binding Proteins/genetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1fa8fcdb77f66933f35bb3288d610fTest
https://doi.org/10.1136/jmg.2005.036061Test

المؤلفون: Erik A. Sistermans, Willy M. Nillesen, C G de Kovel, Sascha Vermeer, M Kets, M H A Versteeg, Dominique Smeets, Gerard Merkx, Nine V A M Knoers, Han G. Brunner, B. B. A. De Vries, David A. Koolen, C M A van Ravenswaaij

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Journal of Medical Genetics, 41, 12, pp. 892-9
Journal of Medical Genetics, 41(12), 892-899. BMJ Publishing Group
Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, Van Ravenswaaij, C M A, De Kovel, C G, Brunner, H G, Smeets, D, De Vries, B B A & Sistermans, E A 2004, ' Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) ', Journal of Medical Genetics, vol. 41, no. 12, pp. 892-899 . https://doi.org/10.1136/jmg.2004.023671Test
Journal of Medical Genetics, 41, 892-9

مصطلحات موضوعية: Male, Molecular Probe Techniques, Biology, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Clinical significance, Genetic Testing, Multiplex ligation-dependent probe amplification, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Genetic testing, Gene Rearrangement, medicine.diagnostic_test, Infant, Gene rearrangement, Telomere, medicine.disease, Subtelomere, Developmental disorder, Child, Preschool, dup, Original Article, Female, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2fc120befa75d2fcb4a212beab2dcbfTest
https://doi.org/10.1136/jmg.2004.023671Test

المؤلفون: Geert Vandeweyer, Willy M. Nillesen, Sven Parkel, P Finnemore, John C. K. Barber, F Kooy, Bart Loeys, K Lachlan, John A. Crolla, Carl Baker, Nicola Foulds, N. Van der Aa, Viv K. Maloney, Luis A. Pérez-Jurado, B. B. A. De Vries, Tjitske Kleefstra, R. Pfundt, T.J.L. de Ravel, Ernie M.H.F. Bongers, Jeffrey W. Innis, Samantha J. L. Knight, L E Connell, Joris Vermeesch, Ants Kurg, Franki Speleman, S Huang, M van Kalmthout, Heather C Mefford, Marcelo A. Nobrega, Han G. Brunner, Christopher Geoffrey Woods, N. de Leeuw, B W M van Bon, Marco Fichera, Catherine Mercer, Clara Serra-Juhé, Sandra Janssens, C M A van Ravenswaaij, Ingrid Simonic, Björn Menten, Geert Mortier, Maurizio Elia, Alexandre C. Pereira, Lionel Willatt, J. P. Fryns, B Castle, Andrew J. Sharp, Katrin Õunap, A Oostra, Santina Reitano, Corrado Romano, David A. Koolen, H. Stewart, K Smith, Evan E. Eichler

المساهمون: Clinical sciences, Medical Genetics, Erasmushogeschool Brussel, Chemical Engineering and Industrial Chemistry, Faculty of Engineering, Vrije Universiteit Brussel, Faculty of Psychology and Educational Sciences, Faculty of Law and Criminology

المصدر: JOURNAL OF MEDICAL GENETICS, 46(8), 511-523. BMJ PUBLISHING GROUP
JOURNAL OF MEDICAL GENETICS
Journal of medical genetics
Journal of Medical Genetics, 46, 8, pp. 511-23
Journal of Medical Genetics, 46, 511-23

مصطلحات موضوعية: Proband, Male, LINKAGE DISEQUILIBRIUM, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosome Disorders, Disease, Bioinformatics, CHROMOSOME 22Q11, Epilepsy, PRADER-WILLI, Chromosome Disorders/genetics, Gene Duplication, Gene duplication, HUMAN GENOME, Copy-number variation, MOLECULAR CHARACTERIZATION, Child, Genetics (clinical), Segmental duplication, Oligonucleotide Array Sequence Analysis, Genetics, Chromosomes, Human, Pair 15/genetics, ABSENT-RADIUS SYNDROME, Microdeletion syndrome, syndrome, Pedigree, Female, pregnancy, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Child, preschool, SEGMENTAL DUPLICATIONS, COPY-NUMBER VARIATION, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, medicine, Humans, Clinical significance, Chromosome Aberrations, Chromosomes, Human, Pair 15, Infant, Newborn, Infant, medicine.disease, Intellectual Disability/genetics, Human medicine, ARRAY-CGH, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d06febf35b11ebd2e18af4936f3b546Test
https://hdl.handle.net/20.500.14017/5a89518b-61dd-4618-b6d6-30e671f9cca0Test

المؤلفون: Nine V A M Knoers, E.N. Levtchenko, Jos M. T. Draaisma, Willy O. Renier, C. M. A. van Ravenswaaij, T.A.J. Antonius

المصدر: European Journal of Pediatrics, 167, 7, pp. 807-10
European Journal of Pediatrics
European Journal of Pediatrics, 167(7), 807-810. SPRINGER
European Journal of Pediatrics, 167, 807-10

مصطلحات موضوعية: Specific growth, Male, Microcephaly, Pediatrics, medicine.medical_specialty, Health aging / healthy living [IGMD 5], Body height, Birth weight, growth, Membrane transport and intracellular motility [NCMLS 5], Medical Records, Genomic disorders and inherited multi-system disorders [IGMD 3], Sex Factors, wolf-hirschhorn, Sex factors, medicine, Birth Weight, Humans, Multicenter Studies as Topic, Pediatrics, Perinatology, and Child Health, growth charts, Wolf–Hirschhorn syndrome, WHS, Renal disorder [IGMD 9], Original Paper, business.industry, Wolf-Hirschhorn Syndrome, Medical record, Body Weight, Infant, Newborn, Wolf-Hirschhorn, Infant, Nutrition and Health [UMCN 5.5], medicine.disease, Body Height, Chromosome 4, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, whs, Functional Neurogenomics [DCN 2]

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e707d21395d43107c416375c977ad09eTest
https://lirias.kuleuven.be/handle/123456789/653717Test