المؤلفون: Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, Deardorff, Matthew A

المصدر: Human molecular genetics. 23(11)

مصطلحات موضوعية: Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/77x9r19nTest

المؤلفون: Liebs, Sandra, Eder, Theresa, Klauschen, Frederick, Schütte, Moritz, Yaspo, Marie-Laure, Keilholz, Ulrich, Tinhofer, Ingeborg, Kidess-Sigal, Evelyn, Braunholz, Diana

المصدر: http://lobid.org/resources/99370678536806441Test#!, 40(33):5204-5212.

مصطلحات موضوعية: Female [MeSH], Mutation [MeSH], Tumour biomarkers, Humans [MeSH], Oncogenes [MeSH], Metastasis, Liquid Biopsy [MeSH], Cell-Free Nucleic Acids [MeSH], Colorectal Neoplasms [MeSH], Article, Male [MeSH], Neoplastic Cells, Circulating [MeSH], Pilot Projects [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6443682Test; https://doi.org/10.1038/s41388-021-01928-wTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8376638Test/

الإتاحة: https://doi.org/10.1038/s41388-021-01928-wTest
https://repository.publisso.de/resource/frl:6443682Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8376638Test/

المؤلفون: Tinhofer, Ingeborg, Braunholz, Diana, Klinghammer, Konrad

المصدر: Cancers of the Head & Neck ; volume 5, issue 1 ; ISSN 2059-7347

مصطلحات موضوعية: Pharmacology (medical)

الإتاحة: https://doi.org/10.1186/s41199-020-00056-4Test

المؤلفون: Zuin, Jessica, Casali, Valentina, Pozojevic, Jelena, Kolovos, Petros, van den Hout, Mirjam C. G. N., van Ijcken, Wilfred F. J., Parenti, Ilaria, Braunholz, Diana, Baron, Yorann, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

المساهمون: Erasmus University Medical Center Rotterdam (Erasmus MC), Universität zu Lübeck = University of Lübeck Lübeck, IT University of Copenhagen (ITU), Institut de Génétique et Développement de Rennes (IGDR), 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 ), Netherlands Organization for Health Research and Development (ZonMw) 40188, German Federal Ministry of Education and Research (BMBF), French National Research Agency (ANR), Netherlands Organisation for Scientific Research (NWO)(ALW grant) 821.02.014, DFG Research Unit FOR2488, BMBF-Chromatin-Net 01GM1520C

المصدر: ISSN: 1553-7390.

مصطلحات موضوعية: [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29261648; hal-01688185; https://univ-rennes.hal.science/hal-01688185Test; https://univ-rennes.hal.science/hal-01688185/documentTest; https://univ-rennes.hal.science/hal-01688185/file/hal-01304359.pdfTest; PUBMED: 29261648

الإتاحة: https://doi.org/10.1371/journal.pgen.1007137Test
https://univ-rennes.hal.science/hal-01688185Test
https://univ-rennes.hal.science/hal-01688185/documentTest
https://univ-rennes.hal.science/hal-01688185/file/hal-01304359.pdfTest

المؤلفون: Parenti, Ilaria, Gervasini, Cristina, Pozojevic, Jelena, Graul-Neumann, Luitgard, Azzollini, Jacopo, Braunholz, Diana, Watrin, Erwan, Wendt, Kerstin S., Cereda, Anna, Cittaro, Davide, Gillessen-Kaesbach, Gabriele, Lazarevic, Dejan, Mariani, Milena, Russo, Silvia, Werner, Ralf, Krawitz, Peter, Larizza, Lidia, Selicorni, Angelo, Kaiser, Frank J.

المساهمون: Università degli Studi di Milano = University of Milan (UNIMI), Institut für Humangenetik Lübeck, Universität zu Lübeck = University of Lübeck Lübeck, Institut de Génétique et Développement de Rennes (IGDR), 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 ), Department of Cell Biology, Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB), San Raffaele Scientific Institute, Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics, IRCCS Istituto Auxologico Italiano, Mariani Foundation, Milan, the clinical activity of UOS Pediatric Genetic Clinic of MBBM Foundation Monza, in the frame of E-Rare-2(TARGET-CdLS), the German Federal Ministry of Education and Research (BMBF) (to F. J.K.), the Netherlands Organization for Health Research and Development (ZonMW) (to K. S.W.), the Agence Nationale de la Recherche (ANR) (to E.W.) and the “Schwerpunktprogramm (SPP) für medizinische Genetik” of the University of Lübeck (to D. B., R.W. and F. J.K.).

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://univ-rennes.hal.science/hal-01117251Test ; Clinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩.

مصطلحات موضوعية: ANKRD11, cohesin, Cornelia de Lange syndrome, KBG syndrome, mosaicism, whole exome sequencing, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25652421; hal-01117251; https://univ-rennes.hal.science/hal-01117251Test; https://univ-rennes.hal.science/hal-01117251/documentTest; https://univ-rennes.hal.science/hal-01117251/file/Broadening%20of%20cohesinopathies_accepted.pdfTest; PUBMED: 25652421

الإتاحة: https://doi.org/10.1111/cge.12564Test
https://univ-rennes.hal.science/hal-01117251Test
https://univ-rennes.hal.science/hal-01117251/documentTest
https://univ-rennes.hal.science/hal-01117251/file/Broadening%20of%20cohesinopathies_accepted.pdfTest

المؤلفون: Braunholz, Diana, Saki, Mohammad, Niehr, Franziska, Oeztuerk, Merve, Puertolas, Berta Borras, Konschak, Rober, Budach, Volker, Tinhofer, Ingeborg

مصطلحات موضوعية: ddc:610

وصف الملف: 14 S.; application/pdf

العلاقة: https://refubium.fu-berlin.de/handle/fub188/17006Test; http://dx.doi.org/10.17169/refubium-21186Test

الإتاحة: https://doi.org/10.17169/refubium-21186Test
https://doi.org/10.1371/journal.pone.0163149Test
https://refubium.fu-berlin.de/handle/fub188/17006Test

المؤلفون: Braunholz, Diana

الإتاحة: http://nbn-resolving.de/urn:nbn:de:gbv:841-20130306394Test

المؤلفون: Braunholz, Diana

الوصول الحر: https://www.europeana.eu/item/2048441/item_W65LIBCRVMZBFRJYTM4SSNW3M36QVNB5?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCaTest

المؤلفون: Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

المصدر: European Journal of Human Genetics ; volume 20, issue 3, page 366-366 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2011.209Test
http://www.nature.com/articles/ejhg2011209.pdfTest
http://www.nature.com/articles/ejhg2011209Test

المؤلفون: Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

المصدر: The American Journal of Human Genetics ; volume 90, issue 6, page 1014-1027 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.04.019Test
https://api.elsevier.com/content/article/PII:S0002929712002522?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712002522?httpAccept=text/plainTest