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Sian Ellard

Showing results (51-60 of 439) with videos related to

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Thyroid : Official Journal of the American Thyroid Association|July 15, 2006
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for managementGill Spyer, Sian Ellard, Peter D Turnpenny, et al.
BMJ Case Reports|April 9, 2013
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutationDana Khoriati, Ved Bhushan Arya, Sarah E Flanagan, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Clinical utility gene card for: Maturity-onset diabetes of the youngKevin Colclough, Cécile Saint-Martin, José Timsit, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 10, 2012
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureasJuliette Dupont, Carla Pereira, Ana Medeira, et al.
Pediatric Diabetes|November 28, 2013
Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicismYong Mong Bee, Yi Zhao, Sian Ellard, et al.
Pediatric Diabetes|September 14, 2011
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS geneMarianna Rachmiel, Oscar Rubio-Cabezas, Sian Ellard, et al.
Human Molecular Genetics|June 9, 2006
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetesLorna W Harries, Sian Ellard, Amanda Stride, et al.
Diabetes Research and Clinical Practice|October 31, 2012
Permanent neonatal diabetes caused by a novel mutation in the INS geneGonul Catli, Ayhan Abaci, Sarah E Flanagan, et al.
Journal of Clinical Research in Pediatric Endocrinology|June 17, 2014
A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infantErdem Durmaz, Sarah E Flanagan, Mesut Parlak, et al.
European Journal of Medical Genetics|August 21, 2012
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1Amirreza Haghighi, Maryam Razzaghy-Azar, Ali Talea, et al.
Pageof 44

Showing results (51-60 of 439) with videos related to

Sort By:
Pageof 44
Thyroid : Official Journal of the American Thyroid Association|July 15, 2006
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for managementGill Spyer, Sian Ellard, Peter D Turnpenny, et al.
BMJ Case Reports|April 9, 2013
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutationDana Khoriati, Ved Bhushan Arya, Sarah E Flanagan, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Clinical utility gene card for: Maturity-onset diabetes of the youngKevin Colclough, Cécile Saint-Martin, José Timsit, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 10, 2012
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureasJuliette Dupont, Carla Pereira, Ana Medeira, et al.
Pediatric Diabetes|November 28, 2013
Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicismYong Mong Bee, Yi Zhao, Sian Ellard, et al.
Pediatric Diabetes|September 14, 2011
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS geneMarianna Rachmiel, Oscar Rubio-Cabezas, Sian Ellard, et al.
Human Molecular Genetics|June 9, 2006
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetesLorna W Harries, Sian Ellard, Amanda Stride, et al.
Diabetes Research and Clinical Practice|October 31, 2012
Permanent neonatal diabetes caused by a novel mutation in the INS geneGonul Catli, Ayhan Abaci, Sarah E Flanagan, et al.
Journal of Clinical Research in Pediatric Endocrinology|June 17, 2014
A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infantErdem Durmaz, Sarah E Flanagan, Mesut Parlak, et al.
European Journal of Medical Genetics|August 21, 2012
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1Amirreza Haghighi, Maryam Razzaghy-Azar, Ali Talea, et al.
Pageof 44