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Sian Ellard

Showing results (71-80 of 439) with videos related to

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Diabetes Care|October 28, 2003
No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureasMaggie Shepherd, Ewan R Pearson, Jane Houghton, et al.
BMC Health Services Research|June 15, 2007
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophiliaPaula M Saukko, Sian Ellard, Suzanne H Richards, et al.
JIMD Reports|February 23, 2013
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent EpilepsyMalcolm Proudfoot, Philip Jardine, Agne Straukiene, et al.
Genome Medicine|July 22, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratoryRichard C Caswell, Adam C Gunning, Martina M Owens, et al.
Journal of the Endocrine Society|November 19, 2019
Using Structural Analysis <i>In Silico</i> to Assess the Impact of Missense Variants in MEN1Richard C Caswell, Martina M Owens, Adam C Gunning, et al.
Journal of Clinical Research in Pediatric Endocrinology|May 10, 2018
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F <i>ABCC8</i> MutationEmregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, et al.
The Journal of Pediatrics|June 24, 2008
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapyDoga Turkkahraman, Iffet Bircan, Nicholas D Tribble, et al.
The Journal of Molecular Diagnostics : JMD|May 23, 2009
Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniquesKaty Hanlon, Sian Ellard, Claudius E Rudin, et al.
American Journal of Medical Genetics. Part A|May 31, 2008
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesisLouise Chappell, Shaun Gorman, Fiona Campbell, et al.
Molecular Genetics and Metabolism|March 8, 2008
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humansMartijn van de Bunt, Emma L Edghill, Khalid Hussain, et al.
Pageof 44

Showing results (71-80 of 439) with videos related to

Sort By:
Pageof 44
Diabetes Care|October 28, 2003
No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureasMaggie Shepherd, Ewan R Pearson, Jane Houghton, et al.
BMC Health Services Research|June 15, 2007
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophiliaPaula M Saukko, Sian Ellard, Suzanne H Richards, et al.
JIMD Reports|February 23, 2013
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent EpilepsyMalcolm Proudfoot, Philip Jardine, Agne Straukiene, et al.
Genome Medicine|July 22, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratoryRichard C Caswell, Adam C Gunning, Martina M Owens, et al.
Journal of the Endocrine Society|November 19, 2019
Using Structural Analysis <i>In Silico</i> to Assess the Impact of Missense Variants in MEN1Richard C Caswell, Martina M Owens, Adam C Gunning, et al.
Journal of Clinical Research in Pediatric Endocrinology|May 10, 2018
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F <i>ABCC8</i> MutationEmregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, et al.
The Journal of Pediatrics|June 24, 2008
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapyDoga Turkkahraman, Iffet Bircan, Nicholas D Tribble, et al.
The Journal of Molecular Diagnostics : JMD|May 23, 2009
Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniquesKaty Hanlon, Sian Ellard, Claudius E Rudin, et al.
American Journal of Medical Genetics. Part A|May 31, 2008
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesisLouise Chappell, Shaun Gorman, Fiona Campbell, et al.
Molecular Genetics and Metabolism|March 8, 2008
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humansMartijn van de Bunt, Emma L Edghill, Khalid Hussain, et al.
Pageof 44