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List of works by Magdalena Socha

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

scientific article published on 05 March 2020

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

scientific article published on 14 November 2017

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

scientific article published in January 2016

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 01 November 2018

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

scientific article published on 31 July 2019

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

scientific article published on 23 October 2014

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

scientific article published on 15 February 2014

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

scientific article

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 29 May 2018

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

scientific article published on 24 June 2016

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

scientific article published on 27 October 2013

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

scientific article published on 6 February 2014

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

scientific article

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