Zofia Kolesinska - Publications

Clinical and genetic basis of congenital gonadotropin deficiency.

Journal: Human reproduction open

Published: September 27, 2025

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Journal: Orphanet journal of rare diseases

Published: April 07, 2025

Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 29, 2025

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 21, 2024

Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.

Journal: Clinical endocrinology

Published: June 22, 2021

Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: November 04, 2020

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

Journal: Endokrynologia Polska

Published: August 28, 2020

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 27, 2020

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

Journal: Endocrine connections

Published: November 08, 2018

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".

Journal: Orphanet journal of rare diseases

Published: September 04, 2018

Y chromosome in Turner syndrome

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: October 27, 2017

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

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: September 12, 2017