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G MacKay

Showing results (311-320 of 332) with videos related to

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Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.
Human Molecular Genetics|February 19, 2005
Relapsing diabetes can result from moderately activating mutations in KCNJ11Anna L Gloyn, Frank Reimann, Christophe Girard, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Clinical Chemistry and Laboratory Medicine|July 23, 2020
Influence of isotopically labeled internal standards on quantification of serum/plasma 17α-hydroxyprogesterone (17OHP) by liquid chromatography mass spectrometryTze Ping Loh, Chung Shun Ho, Michaela F Hartmann, et al.
American Journal of Human Genetics|August 2, 2007
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effectsSian Ellard, Sarah E Flanagan, Christophe A Girard, et al.
Diabetologia|November 1, 2012
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotypeS E Flanagan, D J G Mackay, S A W Greeley, et al.
Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Leukemia|June 27, 2015
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locusA Chase, W Leung, W Tapper, et al.
Pageof 34

Showing results (311-320 of 332) with videos related to

Sort By:
Pageof 34
Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.
Human Molecular Genetics|February 19, 2005
Relapsing diabetes can result from moderately activating mutations in KCNJ11Anna L Gloyn, Frank Reimann, Christophe Girard, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Clinical Chemistry and Laboratory Medicine|July 23, 2020
Influence of isotopically labeled internal standards on quantification of serum/plasma 17α-hydroxyprogesterone (17OHP) by liquid chromatography mass spectrometryTze Ping Loh, Chung Shun Ho, Michaela F Hartmann, et al.
American Journal of Human Genetics|August 2, 2007
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effectsSian Ellard, Sarah E Flanagan, Christophe A Girard, et al.
Diabetologia|November 1, 2012
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotypeS E Flanagan, D J G Mackay, S A W Greeley, et al.
Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Leukemia|June 27, 2015
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locusA Chase, W Leung, W Tapper, et al.
Pageof 34