Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations
Raymonda Varon(Charité - Universitätsmedizin Berlin), André Reis(Universitätsklinikum Erlangen)
Cited by 152
Related Papers
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
|Nature Genetics|2000|675
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
|Nature Genetics|2010|509
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
|The American Journal of Human Genetics|2007|359
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
|Nature Genetics|1994|347