Ramane J. Pedurupillay
Oslo, Norway
Last Updated: 09/26/2026
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Found 8 publications
Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation.
Journal: Nature cell biology
Published: May 16, 2019
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Journal: American journal of human genetics
Published: December 21, 2016
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Journal: Neuromuscular disorders : NMD
Published: October 23, 2015
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Journal: Neurology
Published: September 23, 2015
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Journal: European journal of medical genetics
Published: August 14, 2015
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Journal: American journal of medical genetics. Part A
Published: September 19, 2014
Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.
Journal: Gene
Published: May 31, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026