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Maria Kousi

Showing results (21-30 of 26) with videos related to

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American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Human Molecular Genetics|July 19, 2015
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorHyun Hor, Ludmila Francescatto, Luca Bartesaghi, et al.
American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Human Molecular Genetics|July 19, 2015
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorHyun Hor, Ludmila Francescatto, Luca Bartesaghi, et al.
American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.
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