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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 16, 2013
Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation
Manal Al-Shawi, Angham Al Mutair, Sian Ellard, et al.
Prenatal Diagnosis
|
April 9, 2008
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
Carolyn Tysoe, Caroline J Law, Richard Caswell, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
September 26, 2017
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
Evangelia Gole, Stavroula Oikonomou, Sian Ellard, et al.
Diabetes Care
|
January 26, 2013
Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59
Ali J Chakera, Sarah E Flanagan, Sian Ellard, et al.
JOP : Journal of the Pancreas
|
March 13, 2014
Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report
Nithya Abraham, Anish Ahamed, Ambika Gopalakrishnan Unnikrishnan, et al.
Gene
|
March 5, 2013
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
Aria Setoodeh, Amirreza Haghighi, Nasrollah Saleh-Gohari, et al.
Diabetes Care
|
March 1, 2005
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation
Ethel Codner, Sarah Flanagan, Sian Ellard, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 30, 2018
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis
Pragya Mangla, Khalid Hussain, Sian Ellard, et al.
European Journal of Pediatrics
|
August 13, 2013
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome
Betül Ersoy, Bayram Özhan, Seniha Kiremitçi, et al.
Hormone Research in Paediatrics
|
March 11, 2010
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks
Anitha Kumaran, Ritika R Kapoor, Sarah E Flanagan, et al.
Page
of 44
Search research articles
Search
Showing results (41-50 of 439) with videos related to
Sort By:
Page
of 44
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 16, 2013
Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation
Manal Al-Shawi, Angham Al Mutair, Sian Ellard, et al.
Prenatal Diagnosis
|
April 9, 2008
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
Carolyn Tysoe, Caroline J Law, Richard Caswell, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
September 26, 2017
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
Evangelia Gole, Stavroula Oikonomou, Sian Ellard, et al.
Diabetes Care
|
January 26, 2013
Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59
Ali J Chakera, Sarah E Flanagan, Sian Ellard, et al.
JOP : Journal of the Pancreas
|
March 13, 2014
Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report
Nithya Abraham, Anish Ahamed, Ambika Gopalakrishnan Unnikrishnan, et al.
Gene
|
March 5, 2013
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
Aria Setoodeh, Amirreza Haghighi, Nasrollah Saleh-Gohari, et al.
Diabetes Care
|
March 1, 2005
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation
Ethel Codner, Sarah Flanagan, Sian Ellard, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
June 30, 2018
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis
Pragya Mangla, Khalid Hussain, Sian Ellard, et al.
European Journal of Pediatrics
|
August 13, 2013
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome
Betül Ersoy, Bayram Özhan, Seniha Kiremitçi, et al.
Hormone Research in Paediatrics
|
March 11, 2010
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks
Anitha Kumaran, Ritika R Kapoor, Sarah E Flanagan, et al.
Page
of 44