Christian Gilissen
Universitair Medisch Centrum Sint Radboud
113 papers found
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A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
UploadDisruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Download from www.ncbi.nlm.nih.govCantú Syndrome Is Caused by Mutations in ABCC9
Download from www.ncbi.nlm.nih.govMutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Download from www.nature.comNext-generation genetic testing for retinitis pigmentosa
Download from onlinelibrary.wiley.comDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Download from www.nature.comNuclear ReceptorsNur77andNurr1Modulate Mesenchymal Stromal Cell Migration
Download from www.ncbi.nlm.nih.govDisease gene identification strategies for exome sequencing
Download from www.nature.comExome sequencing of an isolated Chilean population affected by Specific Language Impairment (SLI)
UploadMutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Download from www.nature.comMutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
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