Associated Papers
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.
Kerecuk L et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
Estefanía E et al.
Annals of Human Genetics, 2006
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
Hampson K et al.
Journal of Medical Genetics, 2000
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