Search filters

List of works by Aleksandra Rojek

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia

scientific article published on 01 July 2014

Adrenal function and MC1R gene analysis in a prepubertal girl with generalized hyperpigmentation: case report

scientific article published on 28 February 2013

Insulin receptor defect as a cause of Rabson-Mendenhall syndrome and other rare genetic insulin resistance syndromes

scientific article published on January 1, 2010

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development

article

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome

scientific article published on 16 December 2017

NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding

scientific article published on 2 February 2013

Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.

scientific article

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

scientific article published on 30 August 2016

X-linked hypophosphatemic rickets in children: clinical phenotype, therapeutic strategies and molecular background

scientific article published on 09 December 2020

Y chromosome in Turner syndrome

scientific article published in January 2017

Paulina is supported by:

About Paulina

Help