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Lista de obras de 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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

artículo científico publicado en 2015

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