Anna Kazmierczak-Kutkowska

17a Kasprzaka Street
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 39 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

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.

Journal: Genes

Published: November 20, 2023

Hypogonadism - when does genetic diagnosis help in therapy?

Hypogonadism - when does genetic diagnosis help in therapy?

Journal: Ginekologia polska

Published: September 08, 2023

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

Journal: American journal of obstetrics and gynecology

Published: June 15, 2023

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Journal: Genes

Published: March 02, 2023

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.

Journal: Genes

Published: January 12, 2023

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Journal: Genes

Published: November 19, 2022

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Journal: Genes

Published: March 31, 2022

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Journal: Genes

Published: March 19, 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

Showing 1-12 of 39

Last Updated: 09/26/2026