Search Results - "Bernardo de Sousa, Sérgio"

The first European consensus on principles of management for achondroplasia by Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus

“…Abstract Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (…”
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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases by Melo, Uirá Souto, Schöpflin, Robert, Acuna-Hidalgo, Rocio, Mensah, Martin Atta, Fischer-Zirnsak, Björn, Holtgrewe, Manuel, Klever, Marius-Konstantin, Türkmen, Seval, Heinrich, Verena, Pluym, Ilina Datkhaeva, Matoso, Eunice, Bernardo de Sousa, Sérgio, Louro, Pedro, Hülsemann, Wiebke, Cohen, Monika, Dufke, Andreas, Latos-Bieleńska, Anna, Vingron, Martin, Kalscheuer, Vera, Quintero-Rivera, Fabiola, Spielmann, Malte, Mundlos, Stefan

“…Genome-wide analysis methods, such as array comparative genomic hybridization (CGH) and whole-genome sequencing (WGS), have greatly advanced the identification…”
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