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Year | Number of Results |
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2022 | 3 |
2023 | 4 |
2024 | 0 |
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Page 1
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.
Mol Genet Metab Rep. 2023 May 23;36:100979. doi: 10.1016/j.ymgmr.2023.100979. eCollection 2023 Sep.
Mol Genet Metab Rep. 2023.
PMID: 37275239
Free PMC article.
Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency.
Bozacı AE, Ünal AT.
Bozacı AE, et al. Among authors: unal at.
Turk J Pediatr. 2022;64(4):741-746. doi: 10.24953/turkjped.2021.4915.
Turk J Pediatr. 2022.
PMID: 36082648
Free article.
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Novel nonsense CAST mutation in two siblings with PLACK syndrome.
Durmaz CD, Tekmenuray-Unal A.
Durmaz CD, et al. Among authors: tekmenuray unal a.
Int J Dermatol. 2023 Oct;62(10):1295-1299. doi: 10.1111/ijd.16760. Epub 2023 Jun 30.
Int J Dermatol. 2023.
PMID: 37387535
No abstract available.
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The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.
Yıldırım R, Unal E, Tekmenuray-Unal A, Taş FF, Özalkak Ş, Çayır A, Özbek MN.
Yıldırım R, et al. Among authors: tekmenuray unal a.
Endocrine. 2023 Feb;79(2):376-383. doi: 10.1007/s12020-022-03206-5. Epub 2022 Oct 4.
Endocrine. 2023.
PMID: 36194344
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FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.
Tekmenuray-Unal A, Durmaz CD.
Tekmenuray-Unal A, et al.
Mol Syndromol. 2023 Feb;14(1):80-87. doi: 10.1159/000525215. Epub 2022 Jul 6.
Mol Syndromol. 2023.
PMID: 36777703
Free PMC article.
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