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List of works by Marzena Kucharczyk

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

scientific article published on 19 November 2012

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

scientific article

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

scientific article published on 31 March 2016

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

scientific article

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

scientific article published on 01 April 2012

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

scientific article published on 29 February 2016

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype

scientific article published on 17 February 2012

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

scientific article

Structural features of the Cu(2+)-vancomycin complex

scientific article published on 25 December 2007

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

scientific article published on 08 August 2014

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

scientific article published on 26 April 2020

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

scientific article published in August 2015

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

scientific article published on 02 February 2015

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