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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363.
Mol Genet Genomic Med. 2024.
PMID: 38284452
Free PMC article.
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr.
Thomasová D, et al. Among authors: zelinova m.
Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023.
Front Med (Lausanne). 2023.
PMID: 38170106
Free PMC article.
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Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Schwarz M, Ryba L, Křepelová A, Moslerová V, Zelinová M, Turnovec M, Martinková J, Kratochvílová L, Drahanský M, Macek M Jr, Havlovicová M.
Schwarz M, et al. Among authors: zelinova m.
Am J Med Genet A. 2022 Apr;188(4):1083-1087. doi: 10.1002/ajmg.a.62616. Epub 2021 Dec 14.
Am J Med Genet A. 2022.
PMID: 34907639
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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: zelinova m.
Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19.
Ann Hum Genet. 2020.
PMID: 32427345
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