Christeen Ramane Pedurupillay

Christeen Ramane J Pedurupillay

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Christeen Ramane Pedurupillay

Christeen Ramane J Pedurupillay

Publications by authors named "Christeen Ramane J Pedurupillay"

6Publications

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1PubMed Central Citations

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Neuromuscul Disord 2016 09 22;26(9):570-5. Epub 2016 Jun 22.

Faculty of Medicine, University of Oslo, Oslo, Norway; Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.06.457DOI Listing
September 2016

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Eur J Med Genet 2016 Jun 13;59(6-7):342-6. Epub 2016 May 13.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.05.005DOI Listing
June 2016

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Am J Med Genet A 2015 Mar;167A(3):657-63

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36944DOI Listing
March 2015