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D J G Mackay

Showing results (1-10 of 15) with videos related to

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Journal of Medical Genetics|July 3, 2007
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14I K Temple, V Shrubb, M Lever, et al.
BMJ Case Reports|July 7, 2011
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14I K Temple, V Shrubb, M Lever, et al.
Journal of Medical Genetics|May 14, 2008
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndromeH Bullman, M Lever, D O Robinson, et al.
Diabetologia|July 30, 2010
Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetesL E Docherty, R L Poole, C J Mattocks, et al.
Human Genetics|April 6, 2002
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitusD J G Mackay, A-M Coupe, J P H Shield, et al.
Diabetologia|April 11, 2002
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetesA L Gloyn, S Ellard, J P Shield, et al.
Human Genetics|June 1, 2005
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated regionS G Kant, A M van der Weij, W Oostdijk, et al.
Clinical Genetics|July 2, 2016
Recent Advances in Imprinting DisordersL Soellner, M Begemann, D J G Mackay, et al.
Diabetologia|February 7, 2013
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patientsL E Docherty, S Kabwama, A Lehmann, et al.
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.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Journal of Medical Genetics|July 3, 2007
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14I K Temple, V Shrubb, M Lever, et al.
BMJ Case Reports|July 7, 2011
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14I K Temple, V Shrubb, M Lever, et al.
Journal of Medical Genetics|May 14, 2008
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndromeH Bullman, M Lever, D O Robinson, et al.
Diabetologia|July 30, 2010
Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetesL E Docherty, R L Poole, C J Mattocks, et al.
Human Genetics|April 6, 2002
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitusD J G Mackay, A-M Coupe, J P H Shield, et al.
Diabetologia|April 11, 2002
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetesA L Gloyn, S Ellard, J P Shield, et al.
Human Genetics|June 1, 2005
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated regionS G Kant, A M van der Weij, W Oostdijk, et al.
Clinical Genetics|July 2, 2016
Recent Advances in Imprinting DisordersL Soellner, M Begemann, D J G Mackay, et al.
Diabetologia|February 7, 2013
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patientsL E Docherty, S Kabwama, A Lehmann, et al.
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.
Pageof 2