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S Bicknell

Showing results (31-40 of 58) with videos related to

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American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMichael B Bober, Tim Niiler, Angela L Duker, et al.
Diabetes|January 29, 2011
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetesIsabel Huang-Doran, Louise S Bicknell, Francis M Finucane, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
Human Mutation|September 11, 2018
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndromeMarta Llorens-Agost, Janna Luessing, Amandine van Beneden, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activityAlexander J M Blakes, Emily Gaul, Wayne Lam, et al.
The New Zealand Medical Journal|June 21, 2022
Genomic discrimination in New Zealand health and life insurance. AGenDA: Against Genomic Discrimination in AotearoaAndrew N Shelling, Louise S Bicknell, Stefan S Bohlander, et al.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
Human Molecular Genetics|November 20, 2024
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxiasPriyanka Sandal, Chian Ju Jong, Ronald A Merrill, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
Pageof 6

Showing results (31-40 of 58) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMichael B Bober, Tim Niiler, Angela L Duker, et al.
Diabetes|January 29, 2011
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetesIsabel Huang-Doran, Louise S Bicknell, Francis M Finucane, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
Human Mutation|September 11, 2018
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndromeMarta Llorens-Agost, Janna Luessing, Amandine van Beneden, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activityAlexander J M Blakes, Emily Gaul, Wayne Lam, et al.
The New Zealand Medical Journal|June 21, 2022
Genomic discrimination in New Zealand health and life insurance. AGenDA: Against Genomic Discrimination in AotearoaAndrew N Shelling, Louise S Bicknell, Stefan S Bohlander, et al.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
Human Molecular Genetics|November 20, 2024
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxiasPriyanka Sandal, Chian Ju Jong, Ronald A Merrill, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
Pageof 6