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A Micheil Innes

Showing results (91-100 of 156) with videos related to

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American Journal of Human Genetics|January 10, 2015
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon proteaseKevin A Strauss, Robert N Jinks, Erik G Puffenberger, et al.
Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
Arthritis and Rheumatism|February 5, 2010
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndromeGeorgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.
Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.
Cell Reports|June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fatesMelissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Pageof 16

Showing results (91-100 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|January 10, 2015
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon proteaseKevin A Strauss, Robert N Jinks, Erik G Puffenberger, et al.
Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, et al.
Arthritis and Rheumatism|February 5, 2010
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndromeGeorgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.
Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.
Cell Reports|June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fatesMelissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
Pageof 16