Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

J S Parboosingh

Showing results (1-10 of 14) with videos related to

Pageof 2
Sort By:
Archives of Neurology|June 16, 1999
Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosisJ S Parboosingh, V Meininger, D McKenna-Yasek, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|November 8, 2014
Costs and benefits of non-invasive fetal RhD determinationL Teitelbaum, A Metcalfe, G Clarke, et al.
Neuromuscular Disorders : NMD|January 1, 1995
Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosisJ S Parboosingh, G A Rouleau, V Meninger, et al.
Neurology|August 1, 1997
Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALSJ S Parboosingh, D A Figlewicz, A Krizus, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrumE Gillesse, A Wade, J S Parboosingh, et al.
Clinical Genetics|September 30, 2016
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrumC Smith, J S Parboosingh, K M Boycott, et al.
Archives of Neurology|December 1, 1995
Absence of mutations in superoxide dismutase and catalase genes in patients with Parkinson's diseaseJ S Parboosingh, M Rousseau, F Rogan, et al.
Journal of Medical Genetics|August 2, 2005
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionK M Davey, J S Parboosingh, D R McLeod, et al.
Neurogenetics|December 17, 2017
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsyJ L Zambonin, D A Dyment, Y Xi, et al.
Clinical Genetics|July 13, 2010
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disordersA M Innes, K M Boycott, E G Puffenberger, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Archives of Neurology|June 16, 1999
Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosisJ S Parboosingh, V Meininger, D McKenna-Yasek, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|November 8, 2014
Costs and benefits of non-invasive fetal RhD determinationL Teitelbaum, A Metcalfe, G Clarke, et al.
Neuromuscular Disorders : NMD|January 1, 1995
Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosisJ S Parboosingh, G A Rouleau, V Meninger, et al.
Neurology|August 1, 1997
Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALSJ S Parboosingh, D A Figlewicz, A Krizus, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrumE Gillesse, A Wade, J S Parboosingh, et al.
Clinical Genetics|September 30, 2016
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrumC Smith, J S Parboosingh, K M Boycott, et al.
Archives of Neurology|December 1, 1995
Absence of mutations in superoxide dismutase and catalase genes in patients with Parkinson's diseaseJ S Parboosingh, M Rousseau, F Rogan, et al.
Journal of Medical Genetics|August 2, 2005
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionK M Davey, J S Parboosingh, D R McLeod, et al.
Neurogenetics|December 17, 2017
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsyJ L Zambonin, D A Dyment, Y Xi, et al.
Clinical Genetics|July 13, 2010
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disordersA M Innes, K M Boycott, E G Puffenberger, et al.
Pageof 2