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T. uzunova
(69 results)?
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023.
PLoS One. 2023.
PMID: 37471416
Free PMC article.
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.
Zunova H, Stolfa M, Kunikova T, Novotna D, Valkovicova R, Štěrbová K, Vlckova M.
Zunova H, et al.
Am J Med Genet A. 2023 Mar;191(3):870-877. doi: 10.1002/ajmg.a.63085. Epub 2022 Dec 22.
Am J Med Genet A. 2023.
PMID: 36548033
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Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
Štěrbová K, Vlčková M, Klement P, Neupauerová J, Staněk D, Zůnová H, Seeman P, Laššuthová P.
Štěrbová K, et al.
Neuropediatrics. 2018 Jun;49(3):204-208. doi: 10.1055/s-0038-1626708. Epub 2018 Feb 14.
Neuropediatrics. 2018.
PMID: 29444535
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Prophylactic or early selective surfactant combined with nCPAP in very preterm infants.
Sandri F, Plavka R, Ancora G, Simeoni U, Stranak Z, Martinelli S, Mosca F, Nona J, Thomson M, Verder H, Fabbri L, Halliday H; CURPAP Study Group.
Sandri F, et al.
Pediatrics. 2010 Jun;125(6):e1402-9. doi: 10.1542/peds.2009-2131. Epub 2010 May 3.
Pediatrics. 2010.
PMID: 20439601
Clinical Trial.
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