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Page 1
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Genes (Basel). 2022 Aug 5;13(8):1393. doi: 10.3390/genes13081393.
Genes (Basel). 2022.
PMID: 36011304
Free PMC article.
One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Yakubov R, Ayman A, Kremer AK, van den Akker M.
Yakubov R, et al. Among authors: ayman a.
J Med Case Rep. 2019 Dec 29;13(1):386. doi: 10.1186/s13256-019-2319-x.
J Med Case Rep. 2019.
PMID: 31883531
Free PMC article.
Review.
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Unusual presentation of a five-month-old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature.
Yakubov R, Ayman A, Klein Kremer A, Bael A, van den Akker M.
Yakubov R, et al. Among authors: ayman a.
Clin Case Rep. 2021 Sep 12;9(9):e04740. doi: 10.1002/ccr3.4740. eCollection 2021 Sep.
Clin Case Rep. 2021.
PMID: 34532044
Free PMC article.
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Open tracheostomy training: a nationwide survey among Otolaryngology-Head and Neck Surgery residents.
Muallem-Kalmovich L, Pitaro J, Asaly A, Kessler A, Eviatar E, Shteiner M, Marom T.
Muallem-Kalmovich L, et al. Among authors: asaly a.
Eur Arch Otorhinolaryngol. 2017 Nov;274(11):4035-4042. doi: 10.1007/s00405-017-4751-0. Epub 2017 Sep 21.
Eur Arch Otorhinolaryngol. 2017.
PMID: 28936545
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