Aleksandra Jakubiak

Wroclaw, DS 50368, Poland

Last Updated: 09/26/2026

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Found 15 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

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

Complex glycerol kinase deficiency - long-term follow-up of two patients.

Complex glycerol kinase deficiency - long-term follow-up of two patients.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: November 08, 2021

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Journal: Molecular genetics & genomic medicine

Published: May 13, 2021

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Journal: Journal of applied genetics

Published: January 28, 2021

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

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: February 17, 2016

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

Journal: Ginekologia polska

Published: December 16, 2015

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Journal: Journal of applied genetics

Published: September 18, 2014

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University

Published: August 29, 2014

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Journal: Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus

Published: January 28, 2014

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: January 27, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026