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Journal Abstract Search

347 related items for PubMed ID: 20301618

  • 1.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Graziano C, Olivucci G.
    ; 1993. PubMed ID: 20301618
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  • 5. Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
    Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y.
    BMC Med Genomics; 2021 Jan 21; 14(1):24. PubMed ID: 33478437
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  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Phelan K, Rogers RC, Boccuto L.
    ; 1993 Jan 21. PubMed ID: 20301377
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Rauen KA.
    ; 1993 Jan 21. PubMed ID: 20301365
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sutton VR.
    ; 1993 Jan 21. PubMed ID: 20301712
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  • 11. A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.
    Ilhan O, Gumus E, Hakan N, Istar H, Harmandar B, Olgun H, Karakus SC, Cullu N, Kohlhase J, Sutherland JD, Barrio R.
    J Pediatr Genet; 2024 Jun 21; 13(2):139-143. PubMed ID: 38721582
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  • 12.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mehta PA, Ebens C.
    ; 1993 Jun 21. PubMed ID: 20301575
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  • 13. Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
    Stein Q, Vostrizansky A, Magay Y, Jandeska S, Westemeyer M, Hendricks E, Pitman T, Hager MM, Anand A, Curry K, Bloom M, Al Haj Baddar N, Tabriziani H, Harrington M, Punj S.
    Kidney Int Rep; 2024 Jun 21; 9(6):1810-1816. PubMed ID: 38899216
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Barbosa M, Jabs EW, Huston S.
    ; 1993 Jun 21. PubMed ID: 20301704
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