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Maria Kousi

Showing results (1-10 of 26) with videos related to

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Annual Review of Neuroscience|May 6, 2016
The Genetic Basis of HydrocephalusMaria Kousi, Nicholas Katsanis
Cold Spring Harbor Perspectives in Medicine|June 3, 2015
Genetic modifiers and oligogenic inheritanceMaria Kousi, Nicholas Katsanis
Human Mutation|October 13, 2011
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesMaria Kousi, Anna-Elina Lehesjoki, Sara E Mole
Journal of Separation Science|February 20, 2025
Recent Advances in Bioanalysis of Cephalosporins Toward Green Sample PreparationMaria Kousi, Natasa P Kalogiouri, Victoria F Samanidou
Neuropediatrics|May 26, 2018
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published CasesOula Knuutinen, Maria Kousi, Maria Suo-Palosaari, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 5, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosisVasyl Nesin, Graham Wiley, Maria Kousi, et al.
Brain : a Journal of Neurology|February 10, 2009
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisMaria Kousi, Eija Siintola, Lenka Dvorakova, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio, Mari Auranen, Ibrahim Mahjneh, et al.
Human Genomics|April 18, 2019
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansionRossella Spataro, Maria Kousi, Sali M K Farhan, et al.
Journal of Medical Genetics|June 14, 2012
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneMaria Kousi, Verneri Anttila, Angela Schulz, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Annual Review of Neuroscience|May 6, 2016
The Genetic Basis of HydrocephalusMaria Kousi, Nicholas Katsanis
Cold Spring Harbor Perspectives in Medicine|June 3, 2015
Genetic modifiers and oligogenic inheritanceMaria Kousi, Nicholas Katsanis
Human Mutation|October 13, 2011
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesMaria Kousi, Anna-Elina Lehesjoki, Sara E Mole
Journal of Separation Science|February 20, 2025
Recent Advances in Bioanalysis of Cephalosporins Toward Green Sample PreparationMaria Kousi, Natasa P Kalogiouri, Victoria F Samanidou
Neuropediatrics|May 26, 2018
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published CasesOula Knuutinen, Maria Kousi, Maria Suo-Palosaari, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 5, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosisVasyl Nesin, Graham Wiley, Maria Kousi, et al.
Brain : a Journal of Neurology|February 10, 2009
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisMaria Kousi, Eija Siintola, Lenka Dvorakova, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio, Mari Auranen, Ibrahim Mahjneh, et al.
Human Genomics|April 18, 2019
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansionRossella Spataro, Maria Kousi, Sali M K Farhan, et al.
Journal of Medical Genetics|June 14, 2012
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneMaria Kousi, Verneri Anttila, Angela Schulz, et al.
Pageof 3