AUTHOR INDEX

A B C Ç D E F G H I İ J K L M N O Ö P R S Ş T U Ü V Y Z
Ellard

Sian Ellard

Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene

(J Clin Res Pediatr Endocrinol 2012; 4: -)

A Combination of Nifedipine and Octreotide Treatment in an Hyperinsulinemic Hypoglycemic Infant

(J Clin Res Pediatr Endocrinol 2014; 6: 119-121)

Clinical and Molecular Characterisation of Patients with Congenital Hyperinsulinism

(J Clin Res Pediatr Endocrinol 2015; 7: 5-5)

Genetics and Clinical Characteristics of Neonatal Diabetes

(J Clin Res Pediatr Endocrinol 2015; 7: 7-7)

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

(J Clin Res Pediatr Endocrinol 2015; 7: 144-147)

Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) Gene

(J Clin Res Pediatr Endocrinol 2015; 7: 85-85)

Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia

(J Clin Res Pediatr Endocrinol 2015; 7: 86-86)

Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 Gene

(J Clin Res Pediatr Endocrinol 2015; 7: 86-86)

Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)

(J Clin Res Pediatr Endocrinol 2015; 7: 91-91)

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism

(J Clin Res Pediatr Endocrinol 2016; 8: 197-204)

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

(J Clin Res Pediatr Endocrinol 2016; 8: 478-481)

Hyperinsulinemic Hypoglycemia Due to Homozygous C.706 C>T (P. R236X) Mutation in 3 Siblings: Presentation with Resistant Epilepsy

(J Clin Res Pediatr Endocrinol 2017; 9: 29-29)

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

(J Clin Res Pediatr Endocrinol 2017; 9: 260-264)

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

(J Clin Res Pediatr Endocrinol 2017; 9: 274-277)
Home Archive Search Menu