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2004 2
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Page 1
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. Among authors: dadali el. Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180. Genes (Basel). 2024. PMID: 38397171 Free PMC article.
Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.
Murtazina A, Borovikov A, Marakhonov A, Sharkov A, Sharkova I, Mirzoyan A, Kulikova S, Ganieva R, Zabnenkova V, Ryzhkova O, Nikitin S, Dadali E, Kutsev S. Murtazina A, et al. Among authors: dadali e. Front Pediatr. 2024 Jan 18;12:1280394. doi: 10.3389/fped.2024.1280394. eCollection 2024. Front Pediatr. 2024. PMID: 38304750 Free PMC article.
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. Among authors: dadali e. Int J Mol Sci. 2023 Dec 21;25(1):129. doi: 10.3390/ijms25010129. Int J Mol Sci. 2023. PMID: 38203298 Free PMC article.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: dadali e. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Merkuryeva E, Markova T, Tyurin A, Valeeva D, Kenis V, Sumina M, Sorokin I, Shchagina O, Skoblov M, Nefedova M, Khusainova R, Zakharova E, Dadali E, Kutsev S. Merkuryeva E, et al. Among authors: dadali e. Int J Mol Sci. 2023 Apr 28;24(9):8021. doi: 10.3390/ijms24098021. Int J Mol Sci. 2023. PMID: 37175737 Free PMC article.
35 results