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Ruxandra Bachmann

Showing results (31-40 of 51) with videos related to

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Biology Open|October 14, 2024
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous systemAlexandra R Noble, Markus Masek, Claudia Hofmann, et al.
Human Molecular Genetics|March 5, 2020
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short statureMuhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.
Science (New York, N.Y.)|May 13, 2022
Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene ciliumAvishag Mytlis, Vineet Kumar, Tao Qiu, et al.
Molecular Systems Biology|March 12, 2026
Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathiesTetiana Serdiuk, Virginie Redeker, Jimmy Savistchenko, et al.
Elife|October 10, 2024
Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunctionMorgane Djebar, Isabelle Anselme, Guillaume Pezeron, et al.
Journal of Medical Genetics|January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
Biology Open|October 14, 2024
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous systemAlexandra R Noble, Markus Masek, Claudia Hofmann, et al.
Human Molecular Genetics|March 5, 2020
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short statureMuhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.
Science (New York, N.Y.)|May 13, 2022
Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene ciliumAvishag Mytlis, Vineet Kumar, Tao Qiu, et al.
Molecular Systems Biology|March 12, 2026
Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathiesTetiana Serdiuk, Virginie Redeker, Jimmy Savistchenko, et al.
Elife|October 10, 2024
Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunctionMorgane Djebar, Isabelle Anselme, Guillaume Pezeron, et al.
Journal of Medical Genetics|January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Pageof 6