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G MacKay

Showing results (301-310 of 332) with videos related to

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American Journal of Medical Genetics. Part A|January 19, 2010
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delayM Balasubramanian, J P H Shield, C L Acerini, et al.
Diabetes|November 10, 2012
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human isletsMary E Travers, Deborah J G Mackay, Marloes Dekker Nitert, et al.
Journal of Medical Genetics|February 15, 2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhoodOluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, et al.
Clinical Epigenetics|March 23, 2019
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnosticsI M Krzyzewska, M Alders, S M Maas, et al.
Sleep|April 5, 2019
Sleep Apnea Multilevel Surgery (SAMS) trial protocol: a multicenter randomized clinical trial of upper airway surgery for patients with obstructive sleep apnea who have failed continuous positive airway pressureA Simon Carney, Nick A Antic, Peter G Catcheside, et al.
Clinical Endocrinology|March 9, 2022
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatmentOluwakemi Lokulo-Sodipe, Eloïse Giabicani, Ana P M Canton, et al.
Journal of Medical Genetics|February 1, 2011
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardationKaren Grønskov, Rebecca L Poole, Johanne M D Hahnemann, et al.
Diabetes Care|May 23, 2015
Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretionDavid Carmody, Flavius A Beca, Charles D Bell, et al.
Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.
Clinical Epigenetics|December 13, 2019
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotypeAngela Sparago, Ankit Verma, Maria Grazia Patricelli, et al.
Pageof 34

Showing results (301-310 of 332) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|January 19, 2010
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delayM Balasubramanian, J P H Shield, C L Acerini, et al.
Diabetes|November 10, 2012
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human isletsMary E Travers, Deborah J G Mackay, Marloes Dekker Nitert, et al.
Journal of Medical Genetics|February 15, 2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhoodOluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, et al.
Clinical Epigenetics|March 23, 2019
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnosticsI M Krzyzewska, M Alders, S M Maas, et al.
Sleep|April 5, 2019
Sleep Apnea Multilevel Surgery (SAMS) trial protocol: a multicenter randomized clinical trial of upper airway surgery for patients with obstructive sleep apnea who have failed continuous positive airway pressureA Simon Carney, Nick A Antic, Peter G Catcheside, et al.
Clinical Endocrinology|March 9, 2022
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatmentOluwakemi Lokulo-Sodipe, Eloïse Giabicani, Ana P M Canton, et al.
Journal of Medical Genetics|February 1, 2011
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardationKaren Grønskov, Rebecca L Poole, Johanne M D Hahnemann, et al.
Diabetes Care|May 23, 2015
Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretionDavid Carmody, Flavius A Beca, Charles D Bell, et al.
Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.
Clinical Epigenetics|December 13, 2019
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotypeAngela Sparago, Ankit Verma, Maria Grazia Patricelli, et al.
Pageof 34