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Authors whose works are in public domain in at least one jurisdiction

List of works by Christeen Ramane J Pedurupillay

1-9 of 9 results

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

scientific article published on 06 May 2016
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

scientific article published on June 2017
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

scientific article published on 22 June 2016
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

scientific article published on 01 March 2015
Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation

scientific article published on 29 June 2020
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

scientific article
A Sri Lankan child with 49, XXXXY syndrome

scientific article published on September 1, 2010
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

scientific article published on 27 July 2016
Unrestrained ESCRT-III drives chromosome fragmentation and micronuclear catastrophe

article published in 2019

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