Výsledky vyhledávání - Silvia Majore
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NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome Autor Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola
Vydáno 2005Artigo -
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Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies Autor Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente
Vydáno 2010Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Exon
Missense mutation
Mutation
Cell biology
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Corepressor
Joubert syndrome
KRAS
Molecular biology
Nephronophthisis
Neurofibromatosis
Neurofibromin 1
Noonan syndrome
Nuclear receptor
Ovary
PTPN11
Paracrine signalling
Phenotype
Point mutation
Proband
Receptor
Signal transduction
Transcription factor
Transfection