List of works - Deborah P Merke

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency ⬇️

scientific article published on June 30, 2010

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia

scientific article published on 17 December 2020

Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia

scientific article published on 07 May 2019

Characterization of the CYP11A1 Non-synonymous Variant p.E314K in Children Presenting with Adrenal Insufficiency

article

Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia ⬇️

scientific article published on September 18, 2012

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency ⬇️

scientific article published on August 12, 2012

Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published on 21 November 2018

Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency ⬇️

scientific article published on October 6, 2010

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

scientific article published on 01 September 2020

Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency ⬇️

scientific article published on December 7, 2011

Novel CYP11B1 Mutations in Congenital Adrenal Hyperplasia due to Steroid 11β-Hydroxylase Deficiency ⬇️

scientific article published on January 1, 1998

Novel basic and clinical aspects of congenital adrenal hyperplasia

scientific article published on August 1, 2001

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families ⬇️

scientific article published on March 28, 2011

Response to Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency"

scientific article published on 01 May 2019

Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline"

scientific article published on 01 June 2019

Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia

scientific article published on 09 November 2018

Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia ⬇️

scientific article published on August 17, 2012

List of works by Deborah P Merke