Jakub Klapecki

17a Kasprzaka St
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 9 publications

NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.

NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.

Journal: Journal of applied genetics

Published: December 31, 2024

Novel and recurrent genetic variants associated with male and female infertility.

Novel and recurrent genetic variants associated with male and female infertility.

Journal: Journal of applied genetics

Published: July 09, 2024

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Journal: Orphanet journal of rare diseases

Published: January 04, 2024

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Journal: Genes

Published: May 26, 2021

In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer.

In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: January 07, 2019

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

Journal: Advances in experimental medicine and biology

Published: March 19, 2016

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Journal: Developmental period medicine

Published: September 04, 2014

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Journal: American journal of medical genetics. Part A

Published: February 24, 2014

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Journal: Journal of applied genetics

Published: August 08, 2013

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Last Updated: 09/26/2026