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1دورية أكاديمية
المؤلفون: Houweling A. C., Beaman G. M., Postma A. V., Blair Gainous T., Lichtenbelt K. D., Brancati F., Lopes F. M., Van Der Made I., Polstra A. M., Robinson M. L., Wright K. D., Ellingford J. M., Jackson A. R., Overwater E., Genesio R., Romano S., Camerota L., D'Angelo E., Meijers-Heijboer E. J., Christoffels V. M., McHugh K. M., Black B. L., Newman W. G., Woolf A. S., Creemers E. E.
المساهمون: Houweling, A. C., Beaman, G. M., Postma, A. V., Blair Gainous, T., Lichtenbelt, K. D., Brancati, F., Lopes, F. M., Van Der Made, I., Polstra, A. M., Robinson, M. L., Wright, K. D., Ellingford, J. M., Jackson, A. R., Overwater, E., Genesio, R., Romano, S., Camerota, L., D'Angelo, E., Meijers-Heijboer, E. J., Christoffels, V. M., Mchugh, K. M., Black, B. L., Newman, W. G., Woolf, A. S., Creemers, E. E.
مصطلحات موضوعية: Genetic disease, Molecular genetic, Muscle Biology, Urology
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31513549; info:eu-repo/semantics/altIdentifier/wos/WOS:000500567600031; volume:129; issue:12; firstpage:5374; lastpage:5380; numberofpages:7; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11564/723456Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075961425; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301Test/
الإتاحة: https://doi.org/10.1172/JCI128545Test
http://hdl.handle.net/11564/723456Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301Test/ -
2دورية أكاديمية
المؤلفون: Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), Zweier, C. (Christiane)
مصطلحات موضوعية: CTCF, Drosophila melanogaster, chromatin organization, intellectual disability, neurodevelopmental disorders
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Pols, T, de Vries, L S, Salamon, A Soltirovska, Nikkels, P G J, Lichtenbelt, K D, Mulder-de Tollenaer, S M, Wezel-Meijler, G van
المساهمون: MS Neonatologie, Child Health, Brain, Pathologie Pathologen staf, Cancer, Genetica Klinische Genetica
مصطلحات موضوعية: neuroimaging, newborn, symmetrical thalamic lesions, Pregnancy, Infant, Premature/growth & development, Humans, Female, Male, Thalamus/diagnostic imaging, Clinical Neurology, Pediatrics, Perinatology, and Child Health, Journal Article, Case Reports
وصف الملف: image/pdf
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4دورية أكاديمية
المؤلفون: Cizmeci, M N, Lequin, M, Lichtenbelt, K D, Chitayat, D, Kannu, P, James, A G, Groenendaal, F, Chakkarapani, E, Blaser, S, de Vries, L S
المصدر: Cizmeci , M N , Lequin , M , Lichtenbelt , K D , Chitayat , D , Kannu , P , James , A G , Groenendaal , F , Chakkarapani , E , Blaser , S & de Vries , L S 2018 , ' Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies ' , American Journal of Neuroradiology , vol. 39 , no. 6 , pp. 1146-1152 . https://doi.org/10.3174/ajnr.A5611Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3174/ajnr.A5611Test
https://hdl.handle.net/1983/9ab24bc0-0c55-410e-a53a-525c36a769e8Test
https://research-information.bris.ac.uk/en/publications/9ab24bc0-0c55-410e-a53a-525c36a769e8Test
https://research-information.bris.ac.uk/ws/files/188578792/_system_appendPDF_proof_hi_1_.pdfTest -
5دورية أكاديمية
المؤلفون: Hochstenbach, R, Page-Christiaens, G C M L, van Oppen, A C C, Lichtenbelt, K D, van Harssel, J J T, Brouwer, T, Manten, G T R, van Zon, P, Elferink, M, Kusters, K, Akkermans, O, Ploos van Amstel, J K, Schuring-Blom, G H
المساهمون: Genetica Sectie Genoomdiagnostiek, MS Verloskunde, Other research (not in main researchprogram), Genetica Klinische Genetica, Child Health, Genetica, Genetica Genoom 2, Cancer
وصف الملف: image/pdf
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6دورية أكاديميةA novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
المؤلفون: Munot, P., Saunders, D. E., Milewicz, D. M., Regalado, E. S., Ostergaard, J. R., Braun, K. P., Kerr, T., Lichtenbelt, K. D., Philip, S., Rittey, C., Jacques, T. S., Cox, T. C., Ganesan, V.
المصدر: Brain ; volume 135, issue 8, page 2506-2514 ; ISSN 0006-8950 1460-2156
الإتاحة: https://doi.org/10.1093/brain/aws172Test
http://academic.oup.com/brain/article-pdf/135/8/2506/870093/aws172.pdfTest -
7دورية أكاديمية
المؤلفون: Allali, Slimane, Le Goff, Carine, Pressac-Diebold, Isabelle, Pfenning, Gwendolyne, Mahaut, Clã©mentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F., Crow, Yanick J., Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Genevieve, David, Hennekam, Raoul C., Hurst, Jane A, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, K. D., Lynch, Sally A., Lyonnet, Stanislas, Macdermot, K., Mansour, Sahar, Mégarbané, André, Santos, Heloisa G., Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valerie
المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Ankara University School of Medicine Turkey, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Department of Medical Genetics, Leuven University Hospital, Leuven, Hôpital Charles Nicolle Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Department of genetics, Strasbourg hospital, Strasbourg, Service de Génétique Médicale, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Department of Pediatrics, Academic Medical Center, University of Amsterdam, Departement of Clinical Genetics, Oxford Radcliffe Hospitals, Cedars-Sinai Medical Center, University Medical Center Utrecht, National Center for Medical Genetics, Dublin, SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, Université Saint-Joseph de Beyrouth (USJ), Department of Medical Genetics , Lisboa, Institute of Human Genetics, Newcastle, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Birmingham women's hospital, Birmingham
المصدر: ISSN: 0022-2593.
مصطلحات موضوعية: Genetics, Clinical genetics, Connective tissue disease
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21415077; hal-00614843; https://hal.science/hal-00614843Test; https://hal.science/hal-00614843/documentTest; https://hal.science/hal-00614843/file/PEER_stage2_10.1136%252Fjmg.2010.087544.pdfTest; PUBMED: 21415077
الإتاحة: https://doi.org/10.1136/jmg.2010.087544Test
https://hal.science/hal-00614843Test
https://hal.science/hal-00614843/documentTest
https://hal.science/hal-00614843/file/PEER_stage2_10.1136%252Fjmg.2010.087544.pdfTest -
8دورية أكاديمية
المؤلفون: de Vries, L S, Pistorius, L, Lichtenbelt, K D, Koopman, C, Meuwissen, M E C, Mancini, G M S
المصدر: Pediatric Research ; volume 70, page 181-181 ; ISSN 0031-3998 1530-0447
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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9دورية أكاديمية
المؤلفون: Paulussen, A DC, Schrander-Stumpel, Connie, Tserpelis, D, Spee, K, Stegmann, Sander, Mancini, Grazia Maria Stefania, Brooks, Alice S, Collée, J M, Maat-Kievit, Anneke, Simon, M EH, Van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, W S, Herkert, J C, Van Essen, Ton J., Lichtenbelt, K D, Van Haeringen, Arie, Kwee, Mei Lan, Lachmeijer, A. M.A., Tan-Sindhunata, M.B., Van Maarle, Merel, Arens, Y H, Smeets, Eric, De Die-Smulders, Christine E.M., Engelen, John J, Smeets, Bert, Herbergs, J
المساهمون: Department of Clinical Genetics
المصدر: ISSN: 1018-4813.
مصطلحات موضوعية: Holoprosencephaly, genotype-phenotype, mutations
العلاقة: hal-00544822; https://hal.archives-ouvertes.fr/hal-00544822Test; https://hal.archives-ouvertes.fr/hal-00544822/documentTest; https://hal.archives-ouvertes.fr/hal-00544822/file/PEER_stage2_10.1038%252Fejhg.2010.70.pdfTest
الإتاحة: https://doi.org/10.1038/ejhg.2010.70Test
https://hal.archives-ouvertes.fr/hal-00544822Test
https://hal.archives-ouvertes.fr/hal-00544822/documentTest
https://hal.archives-ouvertes.fr/hal-00544822/file/PEER_stage2_10.1038%252Fejhg.2010.70.pdfTest -
10دورية أكاديمية
المؤلفون: Weiss, M. M., Galjaard, R. H., Sistermans, E. A., Bax, C. J., Bekker, M. N., de Die-Smulders, C. E. M., Feenstra, I., Hoffer, M. J. V., den Hollander, N. S., Knapen, M. F. C. M., van Langen, I. M., Lichtenbelt, K. D., Lombardi, P. M., van Maarle, M. C., van der Meij, K. R. M., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Stevens, S. J., Suijkerbuijk, R. F., van der Ven, A. J. E. M., Van Opstal, D., Henneman, L., Macville, M. V.
المصدر: Weiss , M M , Galjaard , R H , Sistermans , E A , Bax , C J , Bekker , M N , de Die-Smulders , C E M , Feenstra , I , Hoffer , M J V , den Hollander , N S , Knapen , M F C M , van Langen , I M , Lichtenbelt , K D , Lombardi , P M , van Maarle , M C , van der Meij , K R M , Pieters , M J , Schuring-Blom , G H , Sikkel , E , ....
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