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Lista de obras de Marlena Mlynek

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

artículo científico publicado en 2020

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

artículo científico publicado en 2020

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

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

artículo científico publicado en 2020

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