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Sebastian Kwiatkowski

6PUBLICATIONS
71CO-AUTHORS
Gene mappingDevelopmental genetics (incl. sex determination)Infant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (6)

Sort by Publication Date:
|May 02, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Keng Ioi Vong, Sangmoon Lee, Kit Sing Au

|May 13, 2022
Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Julia Bijok, Sylwia Dąbkowska, Anna Kucińska-Chahwan

|Mar 22, 2022
Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics.

Piotr Sieroszewski, Olga Haus, Mariusz Zimmer

|Jul 01, 2021
Extended genetic testing in fetuses with sonographic skeletal system abnormalities.

A Kucińska-Chahwan, T Roszkowski, B Nowakowska

|Jan 15, 2021
Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.

Anna M Kucinska-Chahwan, Tomasz Roszkowski, Maciej Geremek

|Sep 03, 2019
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Marta Unolt, Molka Kammoun, Beata Nowakowska

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Frequent Collaborators

3 joint publications

Tomasz Roszkowski

3 joint publications

Maciej Geremek

3 joint publications

Julia Bijok

3 joint publications

Diana Massalska

2 joint publications

Anna M Kucinska-Chahwan

2 joint publications

Donna McDonald-McGinn

2 joint publications

Hanna Moczulska

2 joint publications

Elaine H Zackai

2 joint publications

T Blaine Crowley

1 joint publications

M Paczkowska

Frequent Collaborators

3 joint publications

Tomasz Roszkowski

3 joint publications

Maciej Geremek

3 joint publications

Julia Bijok

3 joint publications

Diana Massalska

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