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

Year Number of Results
1983 2
1984 1
1988 3
1989 6
1990 2
1991 1
1992 5
1993 7
1994 2
1995 1
1996 1
2000 8
2001 2
2002 2
2003 2
2004 1
2006 1
2007 3
2008 3
2009 2
2010 1
2014 3
2015 2
2016 2
2017 3
2018 2
2020 1
2021 3
2024 0

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71 results

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Page 1
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: bzduch v. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274
Ophthalmological finding in a patient with lowe syndrome.
Tomčíková D, Gerinec A, Bzdúch V, Krásnik V, Bušányová B, Brennerová K. Tomčíková D, et al. Among authors: bzduch v. Cesk Slov Oftalmol. 2018 Winter;74(3):104-106. doi: 10.31348/2018/1/4-3-2018. Cesk Slov Oftalmol. 2018. PMID: 30650973 Free article. English.
[Molecular analysis of Wilson disease].
Vrábelová S, Vánová P, Kopecková L, Trunecka P, Smolka V, Procházková D, Vejvalková S, Suláková A, Kupcová V, Bzdúch V, Kozák L. Vrábelová S, et al. Among authors: bzduch v. Cas Lek Cesk. 2002 Oct 11;141(20):642-5. Cas Lek Cesk. 2002. PMID: 12515040 Czech.
Cataract and early nystagmus due to galactokinase deficiency.
Bzduch V, Tomcikova D, Gerinec A, Behulova D. Bzduch V, et al. J Inherit Metab Dis. 2017 Sep;40(5):749-750. doi: 10.1007/s10545-017-0040-8. Epub 2017 Apr 20. J Inherit Metab Dis. 2017. PMID: 28429145 No abstract available.
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: bzduch v. 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.
71 results