Marzena Kucharczyk
Warsaw, MZ 04730, Poland
Last Updated: 09/26/2026
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Found 11 publications
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
Journal: Journal of clinical medicine
Published: March 26, 2020
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Journal: Molecular genetics & genomic medicine
Published: October 04, 2019
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Journal: Journal of medical genetics
Published: June 10, 2018
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
Journal: American journal of medical genetics. Part A
Published: December 09, 2015
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.
Journal: Ginekologia polska
Published: October 24, 2015
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: September 14, 2015
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.
Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: September 22, 2014
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: July 09, 2014
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
Journal: American journal of medical genetics. Part A
Published: December 05, 2012
History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?
Journal: Clinical dysmorphology
Published: March 07, 2012
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.
Journal: American journal of medical genetics. Part A
Published: February 14, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026