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Mary O'Driscoll

Showing results (1-10 of 28) with videos related to

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Clinical Dysmorphology|November 4, 2008
Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndromeMary O'Driscoll, Clarie Peckham, Bronwyn Kerr
Journal of Movement Disorders|April 15, 2025
Late-onset Ataxia, Chorea, Cognitive impairment, and Insomnia: Expanding the phenotype of IRF2BPL-related diseaseSalhin Alatrash, Mary O'Driscoll, Amrit-Deep Samra
Frontiers in Veterinary Science|March 6, 2023
Editorial: Animal welfare science: Rising to the challenges of a changing worldKeelin Katherine Mary O'Driscoll, Fidelma Butler, Gareth Arnott
Neurology. Clinical Practice|July 10, 2020
Late-onset ataxia plus syndromes: Extending the phenotype of senataxin-related diseaseDuncan Street, Mary O'Driscoll, Malcolm Taylor, et al.
Practical Neurology|September 5, 2024
CSF1 receptor-related leukoencephalopathyIkechukwu Chukwuocha, Simon Ubben, Mary O'Driscoll, et al.
Parkinsonism & Related Disorders|April 10, 2025
Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) geneDuncan Street, Lara Teare, Tanya Georgieva, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Cerebellar hypoplasia and Cohen syndrome: a confirmed associationAlexander Waite, Mirja Somer, Mary O'Driscoll, et al.
Diseases of the Colon and Rectum|September 28, 2002
Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutationJane Green, Mary O'Driscoll, Adam Barnes, et al.
Brain Communications|February 26, 2021
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, et al.
The British Journal of Ophthalmology|March 11, 2010
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotypeEmma M M Burkitt Wright, Rahat Perveen, Naomi Bowers, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
Clinical Dysmorphology|November 4, 2008
Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndromeMary O'Driscoll, Clarie Peckham, Bronwyn Kerr
Journal of Movement Disorders|April 15, 2025
Late-onset Ataxia, Chorea, Cognitive impairment, and Insomnia: Expanding the phenotype of IRF2BPL-related diseaseSalhin Alatrash, Mary O'Driscoll, Amrit-Deep Samra
Frontiers in Veterinary Science|March 6, 2023
Editorial: Animal welfare science: Rising to the challenges of a changing worldKeelin Katherine Mary O'Driscoll, Fidelma Butler, Gareth Arnott
Neurology. Clinical Practice|July 10, 2020
Late-onset ataxia plus syndromes: Extending the phenotype of senataxin-related diseaseDuncan Street, Mary O'Driscoll, Malcolm Taylor, et al.
Practical Neurology|September 5, 2024
CSF1 receptor-related leukoencephalopathyIkechukwu Chukwuocha, Simon Ubben, Mary O'Driscoll, et al.
Parkinsonism & Related Disorders|April 10, 2025
Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) geneDuncan Street, Lara Teare, Tanya Georgieva, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Cerebellar hypoplasia and Cohen syndrome: a confirmed associationAlexander Waite, Mirja Somer, Mary O'Driscoll, et al.
Diseases of the Colon and Rectum|September 28, 2002
Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutationJane Green, Mary O'Driscoll, Adam Barnes, et al.
Brain Communications|February 26, 2021
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, et al.
The British Journal of Ophthalmology|March 11, 2010
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotypeEmma M M Burkitt Wright, Rahat Perveen, Naomi Bowers, et al.
Pageof 3