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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. Among authors: zunova h.
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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