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Constantin Polychronakos

Showing results (61-70 of 125) with videos related to

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Human Genetics|July 4, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseDavid N Cooper, Michael Krawczak, Constantin Polychronakos, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|January 21, 2015
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case seriesIsabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, et al.
BMC Endocrine Disorders|November 12, 2021
Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic reviewIbrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, et al.
Annals of Neurology|January 26, 2012
Exome sequencing: dual role as a discovery and diagnostic toolChee-Seng Ku, David N Cooper, Constantin Polychronakos, et al.
Annals of Human Genetics|June 12, 2012
Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cisKyriakos Kazakos, Kalliopi Kotsa, Maria Yavropoulou, et al.
Plos One|August 20, 2014
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genesQuan Li, Xiaoming Liu, Richard A Gibbs, et al.
Saudi Journal of Biological Sciences|October 10, 2022
Development of simple and effective PCR based assay to detect <i>PCCA</i> mutation (c.425G > A) among Saudi carriers and functional study of the homozygous <i>PCCA</i> mutationsAli Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, et al.
Biomedical and Environmental Sciences : BES|March 26, 2021
<i>Ptpn22</i> Arg>Trp Polymorphism Improves Macrophage-Mediated Adipocyte HomeostasisMei Hang Li, Chao Sun, Yuan Chao Sun, et al.
Endocrinology, Diabetes & Metabolism Case Reports|October 22, 2014
One year remission of type 1 diabetes mellitus in a patient treated with sitagliptinMarcos M Lima-Martínez, Ernesto Guerra-Alcalá, Miguel Contreras, et al.
Journal of Autoimmunity|February 27, 2017
The common, autoimmunity-predisposing 620Arg > Trp variant of PTPN22 modulates macrophage function and morphologyMeihang Li, Hugues Beauchemin, Natalija Popovic, et al.
Pageof 13

Showing results (61-70 of 125) with videos related to

Sort By:
Pageof 13
Human Genetics|July 4, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseDavid N Cooper, Michael Krawczak, Constantin Polychronakos, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|January 21, 2015
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case seriesIsabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, et al.
BMC Endocrine Disorders|November 12, 2021
Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic reviewIbrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, et al.
Annals of Neurology|January 26, 2012
Exome sequencing: dual role as a discovery and diagnostic toolChee-Seng Ku, David N Cooper, Constantin Polychronakos, et al.
Annals of Human Genetics|June 12, 2012
Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cisKyriakos Kazakos, Kalliopi Kotsa, Maria Yavropoulou, et al.
Plos One|August 20, 2014
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genesQuan Li, Xiaoming Liu, Richard A Gibbs, et al.
Saudi Journal of Biological Sciences|October 10, 2022
Development of simple and effective PCR based assay to detect <i>PCCA</i> mutation (c.425G > A) among Saudi carriers and functional study of the homozygous <i>PCCA</i> mutationsAli Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, et al.
Biomedical and Environmental Sciences : BES|March 26, 2021
<i>Ptpn22</i> Arg>Trp Polymorphism Improves Macrophage-Mediated Adipocyte HomeostasisMei Hang Li, Chao Sun, Yuan Chao Sun, et al.
Endocrinology, Diabetes & Metabolism Case Reports|October 22, 2014
One year remission of type 1 diabetes mellitus in a patient treated with sitagliptinMarcos M Lima-Martínez, Ernesto Guerra-Alcalá, Miguel Contreras, et al.
Journal of Autoimmunity|February 27, 2017
The common, autoimmunity-predisposing 620Arg > Trp variant of PTPN22 modulates macrophage function and morphologyMeihang Li, Hugues Beauchemin, Natalija Popovic, et al.
Pageof 13