Search filters

List of works by Stephanie R. Johnson

A novel INS mutation in a family with MODY: variable insulin secretion and putative mechanisms

scientific article published on 6 April 2018

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

scientific article published on 13 June 2018

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

scientific article published on 14 November 2018

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

scientific article published on 06 December 2018

Long-term outcome of insulin pump therapy in children with type 1 diabetes assessed in a large population-based case-control study

scientific article published on 21 August 2013

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

scientific article published on 30 October 2018

Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Qual

scientific article published on 01 May 2019

Sterile abscess formation associated with depot leuprorelin acetate therapy for central precocious puberty ⬇️

scientific article published on May 12, 2011

Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy

scientific article published in January 2011

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

scientific article published on 8 February 2018

Paulina is supported by:

About Paulina

Help