American Journal of Human Genetics 1998 Andrea Ballabio - Abstracts
| American Journal of Human Genetics 1998 Andrea Ballabio | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| A human homologue of the Drosophila melanogaster diaphanous (ital) gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. | Biological sciences | Andrea Ballabio, Silvia Bione, Cinzia Sala, Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Daniela Toniolo | |||
| A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. | Biological sciences | Andrea Ballabio, Giorgio Casari, Alessandro Filla, Sergio Cocozza, Roberto Marconi, Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti, Giampiero Volpe, Antonella Monticelli | |||
| Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. | Biological sciences | Andrea Ballabio, Giancarlo Parenti, Germana Meroni, Generoso Andria, Aurora Daniele, Marilena D'Addio | |||
| Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxyl-terminal domain. | Biological sciences | Karin Gaudenz, Brunella Franco, Andrea Ballabio, Eugenio Montini, Maximilian Muenke, Erich Roessler, Nandita Quaderi, George Feldman, David L. Gasser, Barbel Wittwer, John M. Opitz | |||
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