Tülay Güran

Author PubWeight™ 13.54‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 2011 3.84
2 Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab 2013 1.61
3 Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis 2014 1.47
4 Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets. J Clin Res Pediatr Endocrinol 2011 1.19
5 Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone 2009 0.95
6 Prevalence of type 1 diabetes mellitus in 6-18-yr-old school children living in Istanbul, Turkey. Pediatr Diabetes 2011 0.94
7 Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet 2012 0.89
8 Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. Eur J Endocrinol 2013 0.86
9 Stuve-Wiedemann syndrome: is it underrecognized? Am J Med Genet A 2014 0.80
10 Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases. J Clin Res Pediatr Endocrinol 2008 0.75
11 Effect of Maternal Factors and Fetomaternal Glucose Homeostasis on Birth Weight and Postnatal Growth. J Clin Res Pediatr Endocrinol 2015 0.75
12 THE DISTRIBUTION OF DIFFERENT TYPES OF DIABETES IN CHILDHOOD: A SINGLE CENTER EXPERIENCE. J Clin Res Pediatr Endocrinol 2017 0.75
13 Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height. J Pediatr Endocrinol Metab 2017 0.75
14 The description of a new case with proopiomelanocortin (POMC) deficiency: an increasingly important diagnosis to make. J Clin Res Pediatr Endocrinol 2017 0.75