Agnieszka Stembalska

Wroclaw, DS 50368, Poland

Last Updated: 09/26/2026

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Found 38 publications

The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.

The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.

Journal: Journal of applied genetics
Published: December 18, 2025

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2024

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Journal: Genes
Published: July 11, 2022

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Journal: Genes
Published: March 05, 2022

Presentation of clinical features of Silver‑Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case.

Presentation of clinical features of Silver‑Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case.

Journal: Polish archives of internal medicine
Published: January 27, 2022

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.

Journal: Frontiers in neurology
Published: August 15, 2021

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Journal: Genes
Published: May 25, 2021

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: May 21, 2021

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Journal: Genetics research
Published: August 11, 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

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: January 29, 2020

Perinatal palliative care performed in obstetrics and neonatology wards and hospices for children - own experience

Perinatal palliative care performed in obstetrics and neonatology wards and hospices for children - own experience

Journal: Developmental period medicine
Published: October 29, 2019
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Last Updated: 09/26/2026