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1دورية أكاديمية
المؤلفون: Ilaria Parenti, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Yun R. Li, Sally Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma Ortiz-Gonzalez, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hakon Hakonarson, Matthew A. Deardorff, Gabriele Gillessen-Kaesbach, Frank J. Kaiser
المساهمون: I. Parenti, M.B. Mallozzi, I. Hüning, C.C.G. Gervasini, A. Kuechler, E. Agolini, B. Albrecht, C. Baquero, A. Bohring, N.C. Bramswig, A. Busche, A. Dalski, Y. Guo, B. Hanker, Y. Hellenbroich, D. Horn, A. Micheil Inne, C. Leoni, Y.R. Li, S. Ann Lynch, M. Mariani, L. Medne, B. Mikat, D. Milani, R. Onesimo, X. Ortiz-Gonzalez, E. Christina Prott, H. Reutter, E. Rossier, A. Selicorni, P. Wieacker, A. Wilken, D. Wieczorek, E.H. Zackai, G. Zampino, B. Zirn, H. Hakonarson, M.A. Deardorff, G. Gillessen-Kaesbach, F.J. Kaiser
مصطلحات موضوعية: ANKRD11, Cornelia de Lange syndrome (CdLS), KBG syndrome (KBGS), chromatinopathie, developmental disorders, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33955014; info:eu-repo/semantics/altIdentifier/wos/WOS:000650217800001; journal:CLINICAL GENETICS; http://hdl.handle.net/2434/843883Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105705121
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المؤلفون: Eva Christina Prott, Angelo Selicorni, Cristina Gervasini, Axel Bohring, Alma Kuechler, Mark B. Mallozzi, Emanuele Agolini, Alisha Wilkens, Heiko Reutter, Barbara Mikat, Giuseppe Zampino, Yorck Hellenbroich, Eva Rossier, Denise Horn, Carolina Baquero-Montoya, Roberta Onesimo, Yiran Guo, Hakon Hakonarson, Chiara Leoni, Elaine H. Zackai, Yun Li, Dagmar Wieczorek, Frank J. Kaiser, Milena Mariani, Andreas Busche, Birgit Zirn, Andreas Dalski, Sally Ann Lynch, Livija Medne, Nuria C. Bramswig, Beate Albrecht, Donatella Milani, Xilma R. Ortiz-Gonzalez, Ilaria Parenti, Matthew A Deardorff, A. Micheil Innes, Britta Hanker, Irina Huening, Gabriele Gillessen-Kaesbach, Peter Wieacker
مصطلحات موضوعية: KBG SYNDROME
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::902404dcbdaa40403724acccee7e7a22Test
https://doi.org/10.1111/cge.13977/v2/response1Test -
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المؤلفون: Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li
المصدر: Clinical geneticsREFERENCES. 100(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Cornelia de Lange Syndrome, Adolescent, Medizin, 030105 genetics & heredity, Biology, 03 medical and health sciences, Broad spectrum, Young Adult, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Bone Diseases, Developmental, Tooth Abnormalities, Facies, KBG SYNDROME, medicine.disease, Phenotype, Pedigree, Developmental disorder, Repressor Proteins, 030104 developmental biology, Clinical diagnosis, Child, Preschool, Face, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668804a0e706fdf645d64ce67eee4e7bTest
https://pubmed.ncbi.nlm.nih.gov/33955014Test -
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المؤلفون: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, CareRare Canada Consortium, University of Washington Center for Mendelian Genomics
المصدر: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002Test
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular geneticsمصطلحات موضوعية: Male, Care4Rare Canada Consortium, medicine.disease_cause, Bioinformatics, Medical and Health Sciences, Cohort Studies, Congenital, Genes, X-Linked, De Lange Syndrome, 2.1 Biological and endogenous factors, Missense mutation, Eye Abnormalities, Aetiology, Hypertelorism, Child, Genetics (clinical), X-linked recessive inheritance, Pediatric, Genetics & Heredity, Genetics, screening and diagnosis, Mutation, Genetic disorder, Articles, General Medicine, Biological Sciences, Chemistry, Detection, Phenotype, Child, Preschool, Female, medicine.symptom, Cornelia de Lange Syndrome, Cohesin complex, Intellectual and Developmental Disabilities (IDD), Molecular Sequence Data, Cranial Fontanelles, Mutation, Missense, Biology, Histone Deacetylases, Rare Diseases, medicine, Humans, Amino Acid Sequence, Dental/Oral and Craniofacial Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], University of Washington Center for Mendelian Genomics, Preschool, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, NIPBL, X-Linked, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Repressor Proteins, Genes, Human medicine, Missense, Sequence Alignment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfeTest
https://doi.org/10.1093/hmg/ddu002Test -
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المؤلفون: Andreas Dalski, Abhinav Rampuria, María Concepción Gil-Rodríguez, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Jolanta Wierzba, Melanie Hullings, Antonie D. Kline, Mark B. Mallozzi, Dinah Clark, Melanie Albrecht, Andreas Tzschach, Ian D. Krantz, Christopher T. Fincher, Elizabeth Loy, Matthew A. Deardorff, Juliane Eckhold, Janusz Limon, Raoul C.M. Hennekam, Maninder Kaur, Diana Braunholz
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics
المصدر: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
European journal of human genetics, 20(3), 271-276. Nature Publishing Groupمصطلحات موضوعية: Cornelia de Lange Syndrome, Mutation, Missense, Cell Cycle Proteins, Plasma protein binding, Biology, Article, De Lange Syndrome, Genetics, medicine, Missense mutation, Humans, Protein Interaction Domains and Motifs, Genetics (clinical), Cohesin, Facies, Proteins, NIPBL, medicine.disease, Phenotype, Chromatin, Establishment of sister chromatid cohesion, DNA-Binding Proteins, Intercellular Signaling Peptides and Proteins, Corrigendum, Protein Binding
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fffeba3c1b8a26c4d33bb6014cfc30Test
https://europepmc.org/articles/PMC3283190Test/