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List of works by Svetlana Kostjukovits

'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations

scientific article published on 14 August 2019

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia

scientific article published on 16 July 2019

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

scientific article published on 25 October 2018

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia

scientific article published on 8 March 2017

Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders ⬇️

scientific article published on August 6, 2020

Diversity of pubertal development in cartilage-hair hypoplasia - two illustrative cases.

scientific article published on 17 February 2018

Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity

scientific article published on 16 November 2018

Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females

scientific article published on 18 December 2018

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management

scientific article published on 07 June 2020

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

scientific article published on 01 July 2019

Outcome of children with ESBL-E. coli acute pyelonephritis treated with cephalosporins

scientific article published on 07 May 2018

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2

scientific article published on 24 September 2019

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