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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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María M O'Callaghan

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Seizure|August 2, 2019

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathyAna Fernández-Marmiesse, Sofía Sánchez-Iglesias, Alejandra Darling, et al.

Mitochondrion|March 14, 2015

Mutation loads in different tissues from six pathogenic mtDNA point mutationsMaría M O'Callaghan, Sonia Emperador, Mercè Pineda, et al.

European Journal of Human Genetics : EJHG|May 28, 2015

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 contentClaudio Asencio, María A Rodríguez-Hernandez, Paz Briones, et al.

Pageof 1

Search research articles

Showing results (1-10 of 3) with videos related to

Sort By:

Pageof 1

Seizure|August 2, 2019

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathyAna Fernández-Marmiesse, Sofía Sánchez-Iglesias, Alejandra Darling, et al.

Mitochondrion|March 14, 2015

Mutation loads in different tissues from six pathogenic mtDNA point mutationsMaría M O'Callaghan, Sonia Emperador, Mercè Pineda, et al.

European Journal of Human Genetics : EJHG|May 28, 2015

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 contentClaudio Asencio, María A Rodríguez-Hernandez, Paz Briones, et al.

Pageof 1