Marlena Mlynek

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 13 publications

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Journal: Balkan journal of medical genetics : BJMG

Published: May 18, 2026

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Journal: Genes

Published: January 21, 2026

Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.

Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.

Journal: Journal of pediatric and adolescent gynecology

Published: November 03, 2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Journal: Genes

Published: August 20, 2025

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.

Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.

Journal: Neurologia i neurochirurgia polska

Published: January 28, 2025

Analysis of cytogenetic germline changes in Polish patients with retinoblastoma.

Analysis of cytogenetic germline changes in Polish patients with retinoblastoma.

Journal: Molecular vision

Published: January 25, 2025

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?

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?

Journal: Clinical dysmorphology

Published: December 08, 2020

Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome.

Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome.

Journal: Open medicine (Warsaw, Poland)

Published: July 02, 2020

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

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

Journal: Molecular genetics & genomic medicine

Published: May 12, 2020

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

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

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.

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

Showing 1-12 of 13

Last Updated: 09/26/2026