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S Leduc

Showing results (31-40 of 48) with videos related to

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Blood|September 14, 2010
Sequence variation at multiple loci influences red cell hemoglobin concentrationLuanne L Peters, Jordan A Shavit, Amy J Lambert, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalitiesMagalie S Leduc, Zhiyv Niu, Weimin Bi, et al.
The European Respiratory Journal|November 18, 2011
Lack of involvement of type 7 phosphodiesterase in an experimental model of asthmaE Chevalier, V Lagente, M Dupont, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Resuscitation Plus|October 28, 2025
The impact of the COVID-19 pandemic on bystander CPR and AED rates in CanadaI E Blanchard, E Ghamarian, J Zotzman, et al.
Current Oncology (Toronto, Ont.)|June 4, 2020
A catalyst for transforming health systems and person-centred care: Canadian national position statement on patient-reported outcomesS Ahmed, L Barbera, S J Bartlett, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Clinical and Experimental Immunology|July 22, 2014
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarrayD K Bayer, C A Martinez, H S Sorte, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Blood|September 14, 2010
Sequence variation at multiple loci influences red cell hemoglobin concentrationLuanne L Peters, Jordan A Shavit, Amy J Lambert, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalitiesMagalie S Leduc, Zhiyv Niu, Weimin Bi, et al.
The European Respiratory Journal|November 18, 2011
Lack of involvement of type 7 phosphodiesterase in an experimental model of asthmaE Chevalier, V Lagente, M Dupont, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Resuscitation Plus|October 28, 2025
The impact of the COVID-19 pandemic on bystander CPR and AED rates in CanadaI E Blanchard, E Ghamarian, J Zotzman, et al.
Current Oncology (Toronto, Ont.)|June 4, 2020
A catalyst for transforming health systems and person-centred care: Canadian national position statement on patient-reported outcomesS Ahmed, L Barbera, S J Bartlett, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Clinical and Experimental Immunology|July 22, 2014
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarrayD K Bayer, C A Martinez, H S Sorte, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Pageof 5