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S Ellard

Showing results (51-60 of 144) with videos related to

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Molecular Pathology : MP|February 24, 2001
Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR productsC L Wickham, P Sarsfield, M V Joyner, et al.
Diabetologia|May 26, 2010
Maturity-onset diabetes of the young (MODY): how many cases are we missing?B M Shields, S Hicks, M H Shepherd, et al.
European Journal of Medical Genetics|June 15, 2018
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delayKaren J Low, J Baptista, M Babiker, et al.
QJM : Monthly Journal of the Association of Physicians|November 6, 2010
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutationR J Simms, J A Sayer, R Quinton, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|June 16, 2010
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A geneA M Steele, B M Shields, M Shepherd, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testingZ Miedzybrodzka, A T Hattersley, S Ellard, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|May 17, 2012
HNF1B deletions in patients with young-onset diabetes but no known renal diseaseE L Edghill, K Stals, R A Oram, et al.
Diabetologia|August 18, 2001
Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locusJ Shield, K Owen, D O Robinson, et al.
Pediatric Diabetes|October 8, 2011
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemiaSe Flanagan, A Damhuis, I Banerjee, et al.
Indian Journal of Pediatrics|April 20, 2010
KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetesV V Khadilkar, A V Khadilkar, R R Kapoor, et al.
Pageof 15

Showing results (51-60 of 144) with videos related to

Sort By:
Pageof 15
Molecular Pathology : MP|February 24, 2001
Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR productsC L Wickham, P Sarsfield, M V Joyner, et al.
Diabetologia|May 26, 2010
Maturity-onset diabetes of the young (MODY): how many cases are we missing?B M Shields, S Hicks, M H Shepherd, et al.
European Journal of Medical Genetics|June 15, 2018
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delayKaren J Low, J Baptista, M Babiker, et al.
QJM : Monthly Journal of the Association of Physicians|November 6, 2010
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutationR J Simms, J A Sayer, R Quinton, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|June 16, 2010
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A geneA M Steele, B M Shields, M Shepherd, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testingZ Miedzybrodzka, A T Hattersley, S Ellard, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|May 17, 2012
HNF1B deletions in patients with young-onset diabetes but no known renal diseaseE L Edghill, K Stals, R A Oram, et al.
Diabetologia|August 18, 2001
Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locusJ Shield, K Owen, D O Robinson, et al.
Pediatric Diabetes|October 8, 2011
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemiaSe Flanagan, A Damhuis, I Banerjee, et al.
Indian Journal of Pediatrics|April 20, 2010
KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetesV V Khadilkar, A V Khadilkar, R R Kapoor, et al.
Pageof 15