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Peter N Ray

Showing results (11-20 of 62) with videos related to

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Neuromuscular Disorders : NMD|February 24, 2009
Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin geneBerivan Baskin, Brenda Banwell, Reem Al Khater, et al.
Genomics|March 28, 2003
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein familyFelipe A Cisternas, John B Vincent, Stephen W Scherer, et al.
Bioinformatics (Oxford, England)|December 10, 2014
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
Bioinformatics (Oxford, England)|June 6, 2013
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTBAlan O'Brien, Christian R Marshall, Susan Blaser, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 31, 2017
Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanismBerivan Baskin, Lorraine V Kalia, Brenda L Banwell, et al.
American Journal of Medical Genetics. Part A|June 23, 2015
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvementAyeshah Chaudhry, Peter Sabatini, Liping Han, et al.
Pediatric Neurology|August 1, 2006
Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemiaMontri Saengpattrachai, Peter N Ray, Cynthia E Hawkins, et al.
Neuromuscular Disorders : NMD|July 22, 2008
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palateJiri Vajsar, Berivan Baskin, Kathryn Swoboda, et al.
Clinical Orthopaedics and Related Research|August 2, 2002
Duchenne muscular dystrophy: current knowledge, treatment, and future prospectsW Douglas Biggar, Henry J Klamut, Paula C Demacio, et al.
Pageof 7

Showing results (11-20 of 62) with videos related to

Sort By:
Pageof 7
Neuromuscular Disorders : NMD|February 24, 2009
Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin geneBerivan Baskin, Brenda Banwell, Reem Al Khater, et al.
Genomics|March 28, 2003
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein familyFelipe A Cisternas, John B Vincent, Stephen W Scherer, et al.
Bioinformatics (Oxford, England)|December 10, 2014
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
Bioinformatics (Oxford, England)|June 6, 2013
Identification of deleterious synonymous variants in human genomesOrion J Buske, AshokKumar Manickaraj, Seema Mital, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTBAlan O'Brien, Christian R Marshall, Susan Blaser, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 31, 2017
Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanismBerivan Baskin, Lorraine V Kalia, Brenda L Banwell, et al.
American Journal of Medical Genetics. Part A|June 23, 2015
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvementAyeshah Chaudhry, Peter Sabatini, Liping Han, et al.
Pediatric Neurology|August 1, 2006
Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemiaMontri Saengpattrachai, Peter N Ray, Cynthia E Hawkins, et al.
Neuromuscular Disorders : NMD|July 22, 2008
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palateJiri Vajsar, Berivan Baskin, Kathryn Swoboda, et al.
Clinical Orthopaedics and Related Research|August 2, 2002
Duchenne muscular dystrophy: current knowledge, treatment, and future prospectsW Douglas Biggar, Henry J Klamut, Paula C Demacio, et al.
Pageof 7