檢索結果 - Jan‐Jaap Wesselink
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The implications of alternative splicing in the ENCODE protein complement 由 Michael L. Tress, Pier Luigi Martelli, Adam Frankish, Gabrielle A. Reeves, Jan Jaap Wesselink, Corin Yeats, Páll ĺsólfur Ólason, Mario Albrecht, Hédi Hegyi, Alejandro Giorgetti, Domenico Raimondo, Julien Lagarde, Roman A. Laskowski, Gonzalo López, Michael I. Sadowski, James D. Watson, Piero Fariselli, Ivan Rossi, Alinda Nagy, Kai Wang, Zenia M. Størling, Massimiliano Orsini, Yassen Assenov, Hagen Blankenburg, Carola Huthmacher, Fidel Ramírez, Andreas Schlicker, France Denœud, Phil Jones, Samuel Kerrien, Sandra Orchard, Stylianos E. Antonarakis, Alexandre Reymond, Ewan Birney, Søren Brunak, Rita Casadio, Roderic Guigó, Jennifer Harrow, Henning Hermjakob, David T. Jones, Thomas Lengauer, Christine Orengo, László Patthy, Janet M. Thornton, Anna Tramontano, Alfonso Valencia
出版 2007Artigo -
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<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes 由 María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher Tan, Ilaria Parenti, Carolina Baquero‐Montoya, Lilian Bomme Ousager, Beatriz Puisac, María Hernández-Marcos, Maria Esperanza Teresa‐Rodrigo, Íñigo Marcos‐Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martínez, Dinah Clark, Nicola Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Yiran Guo, Hákon Hákonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, Maria Kibæk, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Leslie A. Lange, Xuanzhu Liu, Milena Mariani, Jonathan Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine Wusik, Louise C. Wilson, Jianguo Zhang, Paulino Gómez‐Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C. M. Hennekam, Frank J. Kaiser, David Fitzpatrick, Juan Pié
出版 2015Artigo
相關主題
Biology
Gene
Genetics
Alternative splicing
Computational biology
Gene isoform
Genome
AKT1
AKT2
AKT3
Annotation
Biochemistry
Bioinformatics
Cell biology
Chromosome
Cohesin
Computer science
Cornelia de Lange Syndrome
Craniofacial
ENCODE
Ensembl
Exonic splicing enhancer
Gene expression
Gene product
Genomics
Human genome
Intellectual disability
Kinase
Medical genetics
Microcephaly