Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1997 1
2002 1
2006 1
2009 1
2010 3
2012 2
2013 4
2014 2
2015 6
2016 3
2017 1
2020 1
2021 2
2022 2
2023 1
2024 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

30 results

Results by year

Filters applied: . Clear all
Page 1
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P. Ziburová J, et al. Among authors: hlavata a. Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 1. Am J Med Genet A. 2021. PMID: 34467644 Free PMC article.
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Tylki-Szymańska A, Almássy Z, Christophidou-Anastasiadou V, Avdjieva-Tzavella D, Barisic I, Cerkauskiene R, Cuturilo G, Djiordjevic M, Gucev Z, Hlavata A, Kieć-Wilk B, Magner M, Pecin I, Plaiasu V, Samardzic M, Zafeiriou D, Zaganas I, Lampe C. Tylki-Szymańska A, et al. Among authors: hlavata a. Orphanet J Rare Dis. 2022 Mar 24;17(1):136. doi: 10.1186/s13023-022-02285-x. Orphanet J Rare Dis. 2022. PMID: 35331284 Free PMC article.
[Peroxisomal hereditary diseases].
Chandoga J, Tomková M, Hlavatá A. Chandoga J, et al. Among authors: hlavata a. Bratisl Lek Listy. 1997 Jan;98(1):32-42. Bratisl Lek Listy. 1997. PMID: 9264803 Review. Slovak.
Troy, a tumor necrosis factor receptor family member, interacts with lgr5 to inhibit wnt signaling in intestinal stem cells.
Fafilek B, Krausova M, Vojtechova M, Pospichalova V, Tumova L, Sloncova E, Huranova M, Stancikova J, Hlavata A, Svec J, Sedlacek R, Luksan O, Oliverius M, Voska L, Jirsa M, Paces J, Kolar M, Krivjanska M, Klimesova K, Tlaskalova-Hogenova H, Korinek V. Fafilek B, et al. Among authors: hlavata a. Gastroenterology. 2013 Feb;144(2):381-391. doi: 10.1053/j.gastro.2012.10.048. Epub 2012 Nov 7. Gastroenterology. 2013. PMID: 23142137
Late onset form of Pompe disease.
Mattosova S, Hlavata A, Spalek P, Kotysova L, Macekova D, Chandoga J. Mattosova S, et al. Among authors: hlavata a. Bratisl Lek Listy. 2015;116(8):502-5. doi: 10.4149/bll_2015_097. Bratisl Lek Listy. 2015. PMID: 26350092
30 results