نتائج البحث - Sigrid Piening
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Phenotypes and genotypes in individuals with <i>SMC1A</i> variants حسب Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam
منشور في 2017Artigo -
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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement حسب Antonie D. Kline, Joanna Moss, Angelo Selicorni, Anne‐Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Maria Antonella Costantino, Valérie Cormier‐Daire, David Fitzpatrick, Marco A. Grados, Laura Groves, W. Spencer Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia T. O’Connor, Chris Oliver, Juan Pié, Sigrid Piening, Carol Potter, Ana L. Quaglio, E. Redeker, David M. Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D. C. van Balkom, Raoul C. M. Hennekam
منشور في 2018Revisão
أدوات البحث:
موضوعات ذات صلة
Biology
Cornelia de Lange Syndrome
Genetics
Chromosome
Clinical psychology
Cohesin
Computer science
Consensus conference
Developmental psychology
Gene
Intellectual disability
Law
Library science
Missense mutation
Phenotype
Political science
Psychiatry
Psychological intervention
Psychology
Rett syndrome
Statement (logic)