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Kabuki syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome described in 19811,2. In 2010, exome sequencing identified MLL2 mutations in patients with KS3. Since then, 5 studies identified a mutation in MLL2 in 56-75,6% of KS patients3-7. Here, we describe 2 ...
ORGANISM(S): Homo sapiens 
From a clinical and molecular perspective, colon cancer (CC) is a heterogeneous disease but to date no classification based on high-density transcriptome data has been established. The aim of this study was to build up a robust molecular classification of mRNA expression profiles (Affymetrix U133Pl...
ORGANISM(S): Homo sapiens 
Comparative genomic hybridization of 15 strains isolated in European hospital environments and selected for CGH based on MLST sequence types
ORGANISM(S): Enterococcus faecalis 
Comparative genomic hybridization of glioma neural stem cells and normal human reference DNA
ORGANISM(S): Homo sapiens 
Background The dramatic increase in incidence of ductal carcinoma in situ (DCIS) associated with mammographic screening for breast cancer has given emphasis to the challenges of managing this important clinical entity. Unlike invasive breast cancer, there is no established histopathologic grading sy...
ORGANISM(S): Homo sapiens 
A Cartes d'Identité des Tumeurs (CIT) project from the french Ligue Nationale Contre le Cancer (http://cit.ligue-cancer.net) | Affymetrix HG-U133 Plus 2.0 : 46 samples| Agilent SurePrint G3 Human CGH Microarray 4x180K Arrays : 135 samples| To explore the prognostic value of genomic alterations pr...
ORGANISM(S): Homo sapiens 
array-CGH analysis of human neural stem cells derived from human ES cells during long term in vitro culture array-CGH analysis of human neural stem cells derived from human ES cells comparing control genomic DNA
ORGANISM(S): Homo sapiens 
From a clinical and molecular perspective, colon cancer (CC) is a heterogeneous disease but to date no classification based on high-density transcriptome data has been established. The aim of this study was to build up a robust molecular classification of mRNA expression profiles (Affymetrix U133Pl...
ORGANISM(S): Homo sapiens 
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