Christian Gilissen
Universitair Medisch Centrum Sint Radboud
113 papers found
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
Download from academic.oup.comDiagnostic exome sequencing in persons with severe intellectual disability
Download from www.researchgate.netDe novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
UploadUnlocking Mendelian disease using exome sequencing
Download from dx.doi.orgExome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Download from www.ncbi.nlm.nih.govAccurate Distinction of Pathogenic from Benign CNVs in Mental Retardation
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