Vejvalková Š - Search Results

1

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Čopíková J, et al. Among authors: vejvalkova s. Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19. Ann Hum Genet. 2020. PMID: 32427345

2

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.

Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Paděrová J, et al. Among authors: vejvalkova s. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8. Clin Genet. 2016. PMID: 26841933

3

[The molecular genetic and clinical findings in two probands with Stargardt disease].

Kousal B, Záhlava J, Vejvalková Š, Hejtmánková M, Lišková P. Kousal B, et al. Among authors: vejvalkova s. Cesk Slov Oftalmol. 2014 Dec;70(6):228-33. Cesk Slov Oftalmol. 2014. PMID: 25640233 Free article. Czech.

4

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A. Nemcikova M, et al. Among authors: vejvalkova s. Eur J Pediatr. 2016 Apr;175(4):587-92. doi: 10.1007/s00431-015-2658-6. Epub 2015 Oct 31. Eur J Pediatr. 2016. PMID: 26518681 Review.

5

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z. Hancarova M, et al. Among authors: vejvalkova s. Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027. Epub 2012 Dec 22. Gene. 2013. PMID: 23266801

6

Array comparative genome hybridization in patients with developmental delay: two example cases.

Hancarova M, Drabova J, Zmitkova Z, Vlckova M, Hedvicakova P, Novotna D, Vlckova Z, Vejvalkova S, Marikova T, Sedlacek Z. Hancarova M, et al. Among authors: vejvalkova s. N Biotechnol. 2012 Feb 15;29(3):321-4. doi: 10.1016/j.nbt.2010.10.006. Epub 2010 Oct 20. N Biotechnol. 2012. PMID: 20969982

7

[Monochorionic biamniotic twins with a common yolk sac in the first trimester ultrasound scan - is there a higher risk of a congenital defect?].

Poláková M, Zetová L, Vlk R, S V. Poláková M, et al. Among authors: s v. Ceska Gynekol. 2012 Dec;77(6):521-3. Ceska Gynekol. 2012. PMID: 23521194 Czech.

8

[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: vejvalkova s. Cas Lek Cesk. 2002 Oct 11;141(20):642-5. Cas Lek Cesk. 2002. PMID: 12515040 Czech.

9

[Turner syndrome: overview of problems, present status, proposals for care and a protocol for monitoring in childhood, adolescence and adulthood].

Snajderová M, Heresová J, Mardesić T, Krenek M, Horejsí J, Kalvachová B, Popelová J, Mikesová E, Wohlová G, Feber J, Gerzová J, Hrobonová V, Teslík L, Zounarová M, Vejvalková S. Snajderová M, et al. Among authors: vejvalkova s. Cas Lek Cesk. 2001 Aug 30;140(17):533-7. Cas Lek Cesk. 2001. PMID: 11702479 Czech.

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