List of works - Magdalena Badura-Stronka

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

scientific article

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

scientific article published on 01 July 2010

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

scientific article published on 23 June 2021

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome

scientific article published on 01 January 2019

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

scientific article published on 12 May 2021

Co-occurrence of Jalili syndrome and muscular overgrowth

scientific article published on 6 June 2017

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

scientific article published on March 2009

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

scientific article published on 23 October 2019

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

scientific article

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

scientific article published on 5 September 2014

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Mowat-Wilson syndrome: growth charts

scientific article published on 15 June 2020

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

scientific article published on 19 April 2010

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

scientific article published on 16 March 2015

Parental age as a risk factor for isolated congenital malformations in a Polish population.

scientific article published on January 2009

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

scientific article published on 31 January 2018

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

scientific article published on 6 June 2013

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

scientific article published on 11 November 2020

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

scientific article published on 01 April 2020

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

List of works by Magdalena Badura-Stronka