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Journal Abstract Search

317 related items for PubMed ID: 18292220

  • 21. A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
    Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E.
    Cytogenet Genome Res; 2015; 146(3):181-6. PubMed ID: 26382598
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  • 22. Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.
    Guenat D, Quentin S, Rizzari C, Lundin C, Coliva T, Edery P, Fryssira H, Bermont L, Ferrand C, Soulier J, Borg C, Rohrlich PS.
    J Hematol Oncol; 2014 Nov 07; 7():82. PubMed ID: 25388916
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  • 25. Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.
    Molina O, Anton E, Vidal F, Blanco J.
    Hum Genet; 2011 Jan 07; 129(1):35-44. PubMed ID: 20931230
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  • 28. Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
    Ripen AM, Chiow MY, Rama Rao PR, Mohamad SB.
    Front Immunol; 2021 Jan 07; 12():778133. PubMed ID: 34804071
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  • 31. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
    Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, Rivera H, Jave-Suárez L, Aguilar-Lemarroy A, Torres-Reyes LA, Córdova-Fletes C, Barros-Núñez P, Delgadillo-Pérez S, Dávalos-Rodríguez IP, García-Ortiz JE, Domínguez MG.
    J Genet; 2019 Jun 07; 98(2):. PubMed ID: 31204697
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  • 33. A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.
    Zhang L, Zhang X, You G, Yu Y, Fu Q.
    Clin Chim Acta; 2018 Jun 07; 481():171-176. PubMed ID: 29550276
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  • 37. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
    Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, Baumann C, Cohen D, Lagneaux C, Tabet AC, Verloes A.
    PLoS One; 2012 Jun 07; 7(3):e30778. PubMed ID: 22412832
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  • 39. Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.
    Osborne LR, Mervis CB.
    Expert Rev Mol Med; 2007 Jun 13; 9(15):1-16. PubMed ID: 17565757
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