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Journal Abstract Search

143 related items for PubMed ID: 36981010

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  • 7. Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.
    Na J, Cui L, Zhen Z, Chen X, Li Q, Gao L, Yuan Y.
    BMC Pediatr; 2024 Apr 02; 24(1):232. PubMed ID: 38566089
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  • 14. A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.
    Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey CA, Dunlap S, Gehrs L, Lee H, Kim HG, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE, Lim SS, Ahn EE.
    bioRxiv; 2023 Nov 19. PubMed ID: 38014320
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  • 16. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
    Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., TUDP ConsortiumTelethon Institute of Genetics and Medicine, Pozzuoli, Italy., Anyane Yeboa K.
    Am J Med Genet A; 2021 Dec 19; 185(12):3740-3753. PubMed ID: 34331327
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  • 17. A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.
    Tan Y, Duan L, Yang K, Liu Q, Wang J, Dong Z, Li Z, He Y, Yan Y, Lin L.
    J Clin Lab Anal; 2020 Aug 19; 34(8):e23326. PubMed ID: 32291808
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  • 18. Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series.
    El-Said A, Morales JL, Rossi G, Longani N.
    Neurol Genet; 2023 Jun 19; 9(3):e200072. PubMed ID: 37168776
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  • 19. A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
    Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R.
    Neuropediatrics; 2024 Jun 19; 55(3):191-195. PubMed ID: 37343586
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