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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

152 related items for PubMed ID: 38357257

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  • 2. Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
    Özyilmaz B, Kirbiyik Ö, Özdemir TR, Kaya Özer Ö, Kutbay YB, Erdogan KM, Güvenç MS, Kale MY, Gazeteci H, Kiliç B, Sertpoyraz F, Diniz G, Baydan F, Gençpinar P, Dündar NO, Yiş U.
    Ann Hum Genet; 2019 Sep; 83(5):331-347. PubMed ID: 31066050
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Pegoraro E, Hoffman EP.
    ; 1993 Sep. PubMed ID: 20301582
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  • 5. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
    Ten Dam L, de Visser M, Ginjaar IB, van Duyvenvoorde HA, van Koningsbruggen S, van der Kooi AJ.
    J Neuromuscul Dis; 2021 Sep; 8(2):261-272. PubMed ID: 33386810
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  • 6. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
    Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I.
    Clin Genet; 2019 Aug; 96(2):126-133. PubMed ID: 30919934
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  • 7. Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study.
    Doody A, Alfano L, Diaz-Manera J, Lowes L, Mozaffar T, Mathews K, Weihl CC, Wicklund M, Statland J, Johnson NE, GRASP-LGMD Consortium.
    Res Sq; 2023 Oct 06. PubMed ID: 37886601
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  • 9. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
    Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R.
    Orphanet J Rare Dis; 2020 Jan 13; 15(1):11. PubMed ID: 31931849
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  • 15. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
    Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X.
    BMC Med Genet; 2019 Oct 29; 20(1):166. PubMed ID: 31664938
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  • 16. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.
    JAMA Neurol; 2015 Dec 29; 72(12):1424-32. PubMed ID: 26436962
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  • 17. Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
    Mojbafan M, Bahmani R, Bagheri SD, Sharifi Z, Zeinali S.
    Orphanet J Rare Dis; 2020 Jan 14; 15(1):14. PubMed ID: 31937337
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