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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2023 | 5 |
2024 | 2 |
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7 results
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Page 1
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Int J Mol Sci. 2023 Dec 21;25(1):114. doi: 10.3390/ijms25010114.
Int J Mol Sci. 2023.
PMID: 38203285
Free PMC article.
Review.
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
Shchagina O, Orlova M, Murtazina A, Filatova A, Skoblov M, Dadali E.
Shchagina O, et al.
Int J Mol Sci. 2023 Jun 6;24(12):9786. doi: 10.3390/ijms24129786.
Int J Mol Sci. 2023.
PMID: 37372933
Free PMC article.
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The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP.
Kovalskaia VA, et al.
Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180.
Genes (Basel). 2024.
PMID: 38397171
Free PMC article.
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New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Baydakova GV, Tsygankova PG, Pechatnikova NL, Bazhanova OA, Nazarenko YD, Zakharova EY.
Baydakova GV, et al.
Int J Neonatal Screen. 2023 Aug 25;9(3):48. doi: 10.3390/ijns9030048.
Int J Neonatal Screen. 2023.
PMID: 37754774
Free PMC article.
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Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.
Efremova A, Kashirskaya N, Krasovskiy S, Melyanovskaya Y, Krasnova M, Mokrousova D, Bulatenko N, Kondratyeva E, Makhnach O, Bukharova T, Zinchenko R, Kutsev S, Goldshtein D.
Efremova A, et al.
Int J Mol Sci. 2024 Feb 27;25(5):2770. doi: 10.3390/ijms25052770.
Int J Mol Sci. 2024.
PMID: 38474016
Free PMC article.
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Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.
Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A.
Shchagina O, et al.
Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072.
Biomedicines. 2023.
PMID: 38255179
Free PMC article.
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Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E.
Murtazina A, et al.
Int J Mol Sci. 2023 Dec 21;25(1):129. doi: 10.3390/ijms25010129.
Int J Mol Sci. 2023.
PMID: 38203298
Free PMC article.
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