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Peter N Ray

Showing results (31-40 of 62) with videos related to

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Human Genetics|July 2, 2013
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populationsBerivan Baskin, Jon R Skinner, Shubhayan Sanatani, et al.
Genome Medicine|April 4, 2009
The cycle of genome-directed medicineJanet A Buchanan, Andrew R Carson, David Chitayat, et al.
Human Genetics|October 25, 2013
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndromeBerivan Baskin, Sanaa Choufani, Yi-An Chen, et al.
JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.
Neuromuscular Disorders : NMD|March 7, 2017
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4AHernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, et al.
American Journal of Medical Genetics|July 13, 2002
Genetic analysis of patients with the Saethre-Chotzen phenotypeKathy Chun, Ahmad S Teebi, Jack H Jung, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2004
Analysis of the glucocerebrosidase gene in Parkinson's diseaseChristine Sato, Angharad Morgan, Anthony E Lang, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplificationAndrea C Stachon, Berivan Baskin, Adam C Smith, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Brain abnormalities in patients with Beckwith-Wiedemann syndromeKate Gardiner, David Chitayat, Sanaa Choufani, et al.
The Journal of Biological Chemistry|October 9, 2002
Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesionRichard C Austin, Joan E B Fox, Geoff H Werstuck, et al.
Pageof 7

Showing results (31-40 of 62) with videos related to

Sort By:
Pageof 7
Human Genetics|July 2, 2013
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populationsBerivan Baskin, Jon R Skinner, Shubhayan Sanatani, et al.
Genome Medicine|April 4, 2009
The cycle of genome-directed medicineJanet A Buchanan, Andrew R Carson, David Chitayat, et al.
Human Genetics|October 25, 2013
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndromeBerivan Baskin, Sanaa Choufani, Yi-An Chen, et al.
JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.
Neuromuscular Disorders : NMD|March 7, 2017
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4AHernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, et al.
American Journal of Medical Genetics|July 13, 2002
Genetic analysis of patients with the Saethre-Chotzen phenotypeKathy Chun, Ahmad S Teebi, Jack H Jung, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2004
Analysis of the glucocerebrosidase gene in Parkinson's diseaseChristine Sato, Angharad Morgan, Anthony E Lang, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplificationAndrea C Stachon, Berivan Baskin, Adam C Smith, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Brain abnormalities in patients with Beckwith-Wiedemann syndromeKate Gardiner, David Chitayat, Sanaa Choufani, et al.
The Journal of Biological Chemistry|October 9, 2002
Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesionRichard C Austin, Joan E B Fox, Geoff H Werstuck, et al.
Pageof 7