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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Mugdha Joshi

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Cold Spring Harbor Molecular Case Studies|May 6, 2016

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.

European Journal of Human Genetics : EJHG|February 20, 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.

American Journal of Human Genetics|August 5, 2014

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.

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Search research articles

Showing results (21-30 of 23) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 23 results.

Cold Spring Harbor Molecular Case Studies|May 6, 2016

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.

European Journal of Human Genetics : EJHG|February 20, 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.

American Journal of Human Genetics|August 5, 2014

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.

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