Lista de obras -

Complex malformations involving the fetal body wall - definition and classification issues.

artículo científico publicado en 2017

First trimester pregnancy loss: Clinical implications of genetic testing.

artículo científico publicado en 2016

First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification

artículo científico publicado en 2016

Foeto-maternal haemorrhage: An unexpected challenge

artículo científico publicado en 2017

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

artículo científico publicado en 2022

In-house genetic counseling increases the detection of abnormal karyotypes-a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland

scientific article published on 19 May 2020

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

artículo científico publicado en 2014

Maternal blood intrauterine transfusions in the therapy of red-cell alloimmunization performed in three difficult cases

artículo científico publicado en 2014

Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review

artículo científico publicado en 2020

Multiplex ligation-dependent probe amplification (MLPA)--new possibilities of prenatal diagnosis.

artículo científico publicado en 2013

Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders

artículo científico publicado en 2017

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

artículo científico publicado en 2016

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report

article

Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing — an up-to-date review and new case report

artículo científico publicado en 2021

Skin-covered bladder exstrophy diagnosed antenatally.

artículo científico publicado en 2013

The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex

scientific article published on 12 February 2019

Triploidy - variability of sonographic phenotypes.

artículo científico publicado en 2017

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy

scientific article published on 01 June 2020

[Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies]

scientific article published on 01 August 2013

[Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results]

artículo científico publicado en 2014

Lista de obras de

Complex malformations involving the fetal body wall - definition and classification issues.

First trimester pregnancy loss: Clinical implications of genetic testing.

First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification

Foeto-maternal haemorrhage: An unexpected challenge

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

In-house genetic counseling increases the detection of abnormal karyotypes-a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

Maternal blood intrauterine transfusions in the therapy of red-cell alloimmunization performed in three difficult cases

Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review

Multiplex ligation-dependent probe amplification (MLPA)--new possibilities of prenatal diagnosis.

Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report

Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing — an up-to-date review and new case report

Skin-covered bladder exstrophy diagnosed antenatally.

The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex

Triploidy - variability of sonographic phenotypes.

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy

[Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies]

[Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results]