Beata Nowakowska
Overview
Explore the profile of Beata Nowakowska including associated specialties, affiliations and a list of published articles.
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Articles
58
Citations
765
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Recent Articles
1.
Moschidou D, Mukherjee S, Blundell M, Drews K, Jones G, Abdulrazzak H, et al.
Mol Ther
. 2024 Aug;
32(8):2798.
PMID: 39122329
No abstract available.
2.
Freud L, Galloway S, Crowley T, Moldenhauer J, Swillen A, Breckpot J, et al.
Am J Obstet Gynecol
. 2023 Sep;
230(3):368.e1-368.e12.
PMID: 37717890
Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is...
3.
Blagowidow N, Nowakowska B, Schindewolf E, Grati F, Putotto C, Breckpot J, et al.
Genes (Basel)
. 2023 Jan;
14(1).
PMID: 36672900
Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the...
4.
Kucinska-Chahwan A, Geremek M, Roszkowski T, Bijok J, Massalska D, Ciebiera M, et al.
Genes (Basel)
. 2022 May;
13(5).
PMID: 35627109
Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions...
5.
Bijok J, Dabkowska S, Kucinska-Chahwan A, Massalska D, Nowakowska B, Gawlik-Zawislak S, et al.
Arch Gynecol Obstet
. 2022 May;
307(1):293-299.
PMID: 35554661
Objectives: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS). Methods: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a...
6.
Suliburska J, Pankiewicz J, Sajnog A, Paczkowska M, Nowakowska B, Bakinowska E, et al.
Diagnostics (Basel)
. 2022 Apr;
12(4).
PMID: 35454027
The present study aimed to investigate the relationship between the concentrations of essential and toxic elements present in the amniotic fluid (AF) and fetal chromosomal abnormalities in pregnant women. A...
7.
Sieroszewski P, Haus O, Zimmer M, Wielgos M, Latos-Bielenska A, Borowiec M, et al.
Ginekol Pol
. 2022 Mar;
93(5):427-437.
PMID: 35315029
No abstract available.
8.
Wielgos M, Kosinski P, Jedrzejak P, Krajewska-Walasek M, Bartnik-Glaska M, Nowakowska B, et al.
Taiwan J Obstet Gynecol
. 2021 Nov;
60(6):1121-1125.
PMID: 34794750
Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of...
9.
Kutkowska-Kazmierczak A, Boczar M, Kalka E, Castaneda J, Klapecki J, Pietrzyk A, et al.
Genes (Basel)
. 2021 Aug;
12(8).
PMID: 34440431
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are...
10.
Gromadzka K, Pankiewicz J, Beszterda M, Paczkowska M, Nowakowska B, Kocylowski R
Toxins (Basel)
. 2021 Jul;
13(6).
PMID: 34207874
Mycotoxin exposure assessments through biomonitoring studies, based on the analysis of amniotic fluid, provides useful information about potential exposure of mothers and fetuses to ubiquitous toxic metabolites that are routinely...