المؤلفون: I. Parenti, C. Gervasini, J. Pozojevic, K. S. Wendt, E. Watrin, J. Azzollini, D. Braunholz, K. Buiting, A. Cereda, H. Engels, L. Garavelli, R. Glazar, B. Graffmann, L. Larizza, H. J. Lüdecke, M. Mariani, M. Masciadri, J. Pié, F. J. Ramos, S. Russo, A. Selicorni, M. Stefanova, T. M. Strom, R. Werner, J. Wierzba, G. Zampino, G. Gillessen Kaesbach, D. Wieczorek, F. J. Kaiser

المساهمون: I. Parenti, C. Gervasini, J. Pozojevic, K.S. Wendt, E. Watrin, J. Azzollini, D. Braunholz, K. Buiting, A. Cereda, H. Engel, L. Garavelli, R. Glazar, B. Graffmann, L. Larizza, H.J. Lüdecke, M. Mariani, M. Masciadri, J. Pié, F.J. Ramo, S. Russo, A. Selicorni, M. Stefanova, T.M. Strom, R. Werner, J. Wierzba, G. Zampino, G. Gillessen Kaesbach, D. Wieczorek, F.J. Kaiser

مصطلحات موضوعية: cohesin, Cornelia de Lange syndrome, HDAC8, mosaicism, X-inactivation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/26671848; info:eu-repo/semantics/altIdentifier/wos/WOS:000374974600007; volume:89; issue:5; firstpage:564; lastpage:573; numberofpages:10; journal:CLINICAL GENETICS; http://hdl.handle.net/2434/449022; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84956676199

الاتاحة: http://hdl.handle.net/2434/449022
https://doi.org/10.1111/cge.12717

المؤلفون: I, Parenti, C, Gervasini, J, Pozojevic, K S, Wendt, E, Watrin, J, Azzollini, D, Braunholz, K, Buiting, A, Cereda, H, Engels, L, Garavelli, R, Glazar, B, Graffmann, L, Larizza, H J, Lüdecke, M, Mariani, M, Masciadri, J, Pié, F J, Ramos, S, Russo, A, Selicorni, M, Stefanova, T M, Strom, R, Werner, J, Wierzba, G, Zampino, G, Gillessen-Kaesbach, D, Wieczorek, F J, Kaiser

المساهمون: Cell biology, Università degli Studi di Milano [Milano] (UNIMI), Institut für Humangenetik Lübeck, Universität zu Lübeck [Lübeck], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, IRCCS Istituto Auxologico Italiano, Clinica Pediatrica, Università cattolica del Sacro Cuore [Milano] (Unicatt), Bundesministerium für Bildung und Forschung, ZonMw, Agence Nationale de la Recherche, Society of Pediatric Psychology, FIS PI12-01318, Spain's Ministry of Health-ISCIII, B20, Gobierno de Aragón, SAL31-ID 17292, Accordo Quadro Università-Regione Lombardia, Università degli Studi di Milano = University of Milan (UNIMI), Universität zu Lübeck = University of Lübeck [Lübeck], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB)

المصدر: Clinical Genetics, 89(5), 564-573. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, Wiley, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩

مصطلحات موضوعية: Male, Genotype, [SDV]Life Sciences [q-bio], Medizin, Sequence Homology, Genetic Counseling, Severity of Illness Index, Histone Deacetylases, Risk Factors, X Chromosome Inactivation, De Lange Syndrome, Genetics, Humans, Amino Acid Sequence, Child, Genetics (clinical), Cohesin, Sequence Homology, Amino Acid, Base Sequence, Mosaicism, Facies, Sequence Analysis, DNA, DNA, Cornelia de Lange syndrome, Repressor Proteins, Amino Acid, Phenotype, Facial Asymmetry, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, HDAC8, Face, Mutation, X-inactivation, Female, Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e59bb9753566cf4c587bcbcc9e5a3167
http://hdl.handle.net/10807/115198

المؤلفون: G. Trogemann, B. Graffmann, J. Piesk

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://elefant.khm.de/~actor/publications/piesk/smpte98track.pdf.

مصطلحات موضوعية: 3D-character animation, view correlation

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.63.5689; http://elefant.khm.de/~actor/publications/piesk/smpte98track.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.63.5689
http://elefant.khm.de/~actor/publications/piesk/smpte98track.pdf

المؤلفون: G. Trogemann, B. Graffmann, J. Piesk

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://elefant.khm.de/~actor/publications/piesk/smpte98track.ps.gz.

مصطلحات موضوعية: tracking

وصف الملف: application/postscript

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.41.695; http://elefant.khm.de/~actor/publications/piesk/smpte98track.ps.gz

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.41.695
http://elefant.khm.de/~actor/publications/piesk/smpte98track.ps.gz