Author/Creator: Neethukrishna, Kausthubham - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Neethukrishna, Kausthubham

1. Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. Issue 5 (28th February 2019)

Authors:: Kaur, Parneet; Neethukrishna, Kausthubham; Kumble, Ali; Girisha, Katta M.; Shukla, Anju
Journal:: American journal of medical genetics
Issue:: Volume 179:Issue 5(2019)
Page Start:: 857
Record Type:: Journal Article
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2. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Issue 3 (21st December 2018)

Authors:: Girisha, Katta M.; von Elsner, Leonie; Neethukrishna, Kausthubham; Muranjan, Mamta; Shukla, Anju; Bhavani, Gandham SriLakshmi; Nishimura, Gen; Kutsche, Kerstin; Mortier, Geert
Journal:: Human mutation
Issue:: Volume 40:Issue 3(2019)
Page Start:: 299
Record Type:: Journal Article
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