Marek Turnovec
Overview
Explore the profile of Marek Turnovec including associated specialties, affiliations and a list of published articles.
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9
Citations
127
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Recent Articles
1.
Chimirri L, Caufield J, Bridges Y, Matentzoglu N, Gargano M, Cazalla M, et al.
medRxiv
. 2025 Mar;
PMID: 40061308
Background: Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the...
2.
Schwarz M, Geryk J, Havlovicova M, Mihulova M, Turnovec M, Ryba L, et al.
Sci Rep
. 2024 Apr;
14(1):9873.
PMID: 38684768
Cluster analyzes of facial models of autistic patients aim to clarify whether it is possible to diagnose autism on the basis of facial features and further to stratify the autism...
3.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
4.
Schwarz M, Ryba L, Krepelova A, Moslerova V, Zelinova M, Turnovec M, et al.
Am J Med Genet A
. 2021 Dec;
188(4):1083-1087.
PMID: 34907639
Zimmermann-Laband syndrome is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features....
5.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
copikova J, Paderova J, Romankova V, Havlovicova M, Balascakova M, Zelinova M, et al.
Ann Hum Genet
. 2020 May;
84(5):380-392.
PMID: 32427345
We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next-generation sequencing, 11 different COL2A1 variants (seven...
6.
Nellaker C, Alkuraya F, Baynam G, Bernier R, Bernier F, Boulanger V, et al.
Front Genet
. 2019 Aug;
10:611.
PMID: 31417602
The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and...
7.
Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Basak N, et al.
PLoS One
. 2017 Feb;
12(2):e0172595.
PMID: 28207884
[This corrects the article DOI: 10.1371/journal.pone.0162866.].
8.
Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Basak N, et al.
PLoS One
. 2016 Sep;
11(9):e0162866.
PMID: 27636550
Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and...
9.
Mlcoch T, Klimes J, Fila L, Vavrova V, Skalicka V, Turnovec M, et al.
Eur J Health Econ
. 2016 Jan;
18(1):73-82.
PMID: 26743971
Background: Economic data pertaining to cystic fibrosis (CF), is limited in Europe generally, and completely lacking in Central and Eastern Europe. We performed an analysis of all direct costs associated...
10.
Krenkova P, Piskackova T, Holubova A, Balascakova M, Krulisova V, camajova J, et al.
J Cyst Fibros
. 2013 Jan;
12(5):532-7.
PMID: 23276700
Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the...