Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Neuromuscul Disord. 2009 Nov;19(11):749-53. doi: 10.1016/j.nmd.2009.08.011. Epub 2009 Sep 26.
Neuromuscul Disord. 2009.
PMID: 19783145
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
Vrzalová Z, et al. Among authors: hruba z.
Int J Mol Med. 2010 Oct;26(4):595-603. doi: 10.3892/ijmm_00000504.
Int J Mol Med. 2010.
PMID: 20818501
Item in Clipboard
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Réblová K, Hrubá Z, Procházková D, Pazdírková R, Pouchlá S, Zeman J, Fajkusová L.
Réblová K, et al. Among authors: hruba z.
Clin Chim Acta. 2013 Apr 18;419:1-10. doi: 10.1016/j.cca.2013.01.006. Epub 2013 Jan 26.
Clin Chim Acta. 2013.
PMID: 23357515
Item in Clipboard
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L.
Vrzalová Z, et al. Among authors: hruba z.
Eur J Med Genet. 2011 Mar-Apr;54(2):112-7. doi: 10.1016/j.ejmg.2010.10.005. Epub 2010 Oct 21.
Eur J Med Genet. 2011.
PMID: 20970527
Item in Clipboard
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.
Prochazkova D, Hruba Z, Konecna P, Skotakova J, Fajkusova L.
Prochazkova D, et al. Among authors: hruba z.
J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):482-483. doi: 10.4274/jcrpe.3021. Epub 2016 May 23.
J Clin Res Pediatr Endocrinol. 2016.
PMID: 27217304
Free PMC article.
Item in Clipboard
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
David J, Hrubá Z, Kolouâková S, Votava F.
David J, et al. Among authors: hruba z.
Minerva Pediatr (Torino). 2024 Feb;76(1):24-29. doi: 10.23736/S2724-5276.20.05795-3. Epub 2020 Jun 5.
Minerva Pediatr (Torino). 2024.
PMID: 32508077
Item in Clipboard
[Overloading of school children].
Baksajova T, Hrubá Z.
Baksajova T, et al. Among authors: hruba z.
Zdrav Prac. 1974 Apr;24(4):207-11.
Zdrav Prac. 1974.
PMID: 4495874
Czech.
No abstract available.
Item in Clipboard
Cite
Cite