Jerzy Bal

17a Kasprzaka Street
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 51 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

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

Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.

Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.

Journal: Genes

Published: October 29, 2023

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.

Journal: International journal of molecular sciences

Published: November 30, 2022

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Journal: International journal of molecular sciences

Published: December 01, 2021

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

Journal: Genes

Published: November 09, 2021

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.

Journal: Journal of assisted reproduction and genetics

Published: November 03, 2021

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

Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms

Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms

Journal: Postepy biochemii

Published: May 21, 2021

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

Journal: Journal of mother and child

Published: April 30, 2021

The genetic basis of classical galactosaemia in Polish patients.

The genetic basis of classical galactosaemia in Polish patients.

Journal: Orphanet journal of rare diseases

Published: March 20, 2021

The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children.

The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children.

Journal: Journal of mother and child

Published: March 07, 2021

Showing 1-12 of 51

Last Updated: 09/26/2026