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Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.
Balascaková M, Holubová A, Skalická V, Zemková D, Kracmar P, Gonsorcíkova L, Camajová J, Piskácková T, Lebl J, Drevínek P, Gregor V, Vávrová V, Votava F, Macek M Jr. Balascaková M, et al. Among authors: zemkova d. J Cyst Fibros. 2009 May;8(3):224-7. doi: 10.1016/j.jcf.2009.01.002. Epub 2009 Feb 8. J Cyst Fibros. 2009. PMID: 19208501 Free article.
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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Sediva H, Dusatkova P, Kanderova V, Obermannova B, Kayserova J, Sramkova L, Zemkova D, Elblova L, Svaton M, Zachova R, Kolouskova S, Fronkova E, Sumnik Z, Sediva A, Lebl J, Pruhova S. Sediva H, et al. Among authors: zemkova d. Horm Res Paediatr. 2017;88(2):160-166. doi: 10.1159/000456544. Epub 2017 Mar 2. Horm Res Paediatr. 2017. PMID: 28253502
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
Plachy L, Dusatkova P, Maratova K, Petruzelkova L, Elblova L, Kolouskova S, Snajderova M, Obermannova B, Zemkova D, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: zemkova d. J Clin Endocrinol Metab. 2021 May 13;106(6):1742-1749. doi: 10.1210/clinem/dgab084. J Clin Endocrinol Metab. 2021. PMID: 33570564
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Plachy L, Amaratunga SA, Dusatkova P, Maratova K, Neuman V, Petruzelkova L, Zemkova D, Obermannova B, Snajderova M, Kolouskova S, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: zemkova d. Front Endocrinol (Lausanne). 2023 Jan 13;13:1102968. doi: 10.3389/fendo.2022.1102968. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36714562 Free PMC article.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P, Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr. Křenková P, et al. Among authors: zemkova d. J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. J Cyst Fibros. 2013. PMID: 23276700 Free article.
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