Kausthubham Neethukrishna

Kausthubham Neethukrishna

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Kausthubham Neethukrishna

Kausthubham Neethukrishna

Publications by authors named "Kausthubham Neethukrishna"

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An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Am J Med Genet A 2019 09 27;179(9):1709-1717. Epub 2019 Jun 27.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.61267DOI Listing
September 2019

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

Am J Med Genet A 2019 05 28;179(5):857-861. Epub 2019 Feb 28.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://doi.wiley.com/10.1002/ajmg.a.61103
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http://dx.doi.org/10.1002/ajmg.a.61103DOI Listing
May 2019