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Stephen P Robertson

Showing results (81-90 of 146) with videos related to

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HGG Advances|March 14, 2026
Impaired retinoic acid receptor-γ signalling underlies a heritable form of urothelial keratinising squamous metaplasiaKaya Fukushima, Nicole Avery, Jade Desjardins, et al.
American Journal of Medical Genetics. Part A|July 13, 2021
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variantLynne Rumping, Marja W Wessels, Alex V Postma, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Frontometaphyseal dysplasia and keloid formation without FLNA mutationsHanneke Basart, Annekatrien van de Kar, Lesley Adès, et al.
Case Reports in Genetics|November 21, 2015
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, et al.
European Journal of Medical Genetics|July 6, 2020
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variantsFanny Kortüm, Marcello Niceta, Monia Magliozzi, et al.
American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndromeAnnette F Baas, Michael Gabbett, Milan Rimac, et al.
Journal of Inherited Metabolic Disease|February 13, 2020
Expanding the molecular and clinical phenotypes of FUT8-CDGBobby G Ng, Hassan Dastsooz, Mohammad Silawi, et al.
Pageof 15

Showing results (81-90 of 146) with videos related to

Sort By:
Pageof 15
HGG Advances|March 14, 2026
Impaired retinoic acid receptor-γ signalling underlies a heritable form of urothelial keratinising squamous metaplasiaKaya Fukushima, Nicole Avery, Jade Desjardins, et al.
American Journal of Medical Genetics. Part A|July 13, 2021
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variantLynne Rumping, Marja W Wessels, Alex V Postma, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Frontometaphyseal dysplasia and keloid formation without FLNA mutationsHanneke Basart, Annekatrien van de Kar, Lesley Adès, et al.
Case Reports in Genetics|November 21, 2015
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, et al.
European Journal of Medical Genetics|July 6, 2020
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variantsFanny Kortüm, Marcello Niceta, Monia Magliozzi, et al.
American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndromeAnnette F Baas, Michael Gabbett, Milan Rimac, et al.
Journal of Inherited Metabolic Disease|February 13, 2020
Expanding the molecular and clinical phenotypes of FUT8-CDGBobby G Ng, Hassan Dastsooz, Mohammad Silawi, et al.
Pageof 15