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Stephanie Bielas

Showing results (1-10 of 25) with videos related to

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Transgenic Research|June 17, 2004
Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cellsHolden Higginbotham, Stephanie Bielas, Teruyuki Tanaka, et al.
Journal of Human Genetics|October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegiaMalavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.
Journal of Human Genetics|April 27, 2018
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndromeMalavika Hebbar, Anil Kanthi, Anju Shukla, et al.
European Journal of Medical Genetics|July 17, 2017
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxiaMalavika Hebbar, Katta M Girisha, Anshika Srivastava, et al.
Annual Review of Cell and Developmental Biology|October 12, 2004
Cortical neuronal migration mutants suggest separate but intersecting pathwaysStephanie Bielas, Holden Higginbotham, Hiroyuki Koizumi, et al.
Clinical Dysmorphology|April 21, 2022
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelinationMichelle C do Rosario, Parneet Kaur, Katta Mohan Girisha, et al.
European Journal of Medical Genetics|December 4, 2016
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literatureAnju Shukla, Priyanka Upadhyai, Jhanvi Shah, et al.
Journal of Pediatric Genetics|August 11, 2017
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in <i>PGAP3</i>Sheela Nampoothiri, Malavika Hebbar, Arun Grace Roy, et al.
Congenital Anomalies|February 7, 2018
Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literatureChelna Galada, Malavika Hebbar, Leslie Lewis, et al.
Journal of Human Genetics|March 31, 2017
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Anshika Srivastava, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Transgenic Research|June 17, 2004
Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cellsHolden Higginbotham, Stephanie Bielas, Teruyuki Tanaka, et al.
Journal of Human Genetics|October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegiaMalavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.
Journal of Human Genetics|April 27, 2018
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndromeMalavika Hebbar, Anil Kanthi, Anju Shukla, et al.
European Journal of Medical Genetics|July 17, 2017
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxiaMalavika Hebbar, Katta M Girisha, Anshika Srivastava, et al.
Annual Review of Cell and Developmental Biology|October 12, 2004
Cortical neuronal migration mutants suggest separate but intersecting pathwaysStephanie Bielas, Holden Higginbotham, Hiroyuki Koizumi, et al.
Clinical Dysmorphology|April 21, 2022
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelinationMichelle C do Rosario, Parneet Kaur, Katta Mohan Girisha, et al.
European Journal of Medical Genetics|December 4, 2016
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literatureAnju Shukla, Priyanka Upadhyai, Jhanvi Shah, et al.
Journal of Pediatric Genetics|August 11, 2017
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in <i>PGAP3</i>Sheela Nampoothiri, Malavika Hebbar, Arun Grace Roy, et al.
Congenital Anomalies|February 7, 2018
Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literatureChelna Galada, Malavika Hebbar, Leslie Lewis, et al.
Journal of Human Genetics|March 31, 2017
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Anshika Srivastava, et al.
Pageof 3