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Journal Abstract Search

147 related items for PubMed ID: 31910817

  • 61. Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.
    Felice V, Abhyankar A, Jobanputra V.
    Methods Mol Biol; 2019; 1885():267-285. PubMed ID: 30506204
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  • 65. Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
    Leung GKC, Mak CCY, Fung JLF, Wong WHS, Tsang MHY, Yu MHC, Pei SLC, Yeung KS, Mok GTK, Lee CP, Hui APW, Tang MHY, Chan KYK, Liu APY, Yang W, Sham PC, Kan ASY, Chung BHY.
    BMC Med Genomics; 2018 Oct 25; 11(1):93. PubMed ID: 30359267
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  • 67. Whole-exome sequencing in fetuses with central nervous system abnormalities.
    Reches A, Hiersch L, Simchoni S, Barel D, Greenberg R, Ben Sira L, Malinger G, Yaron Y.
    J Perinatol; 2018 Oct 25; 38(10):1301-1308. PubMed ID: 30108342
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  • 68. Importance of complete phenotyping in prenatal whole exome sequencing.
    Aarabi M, Sniezek O, Jiang H, Saller DN, Bellissimo D, Yatsenko SA, Rajkovic A.
    Hum Genet; 2018 Feb 25; 137(2):175-181. PubMed ID: 29392406
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  • 69. Malan syndrome: Extension of genotype and phenotype spectrum.
    Rai A, Narayanan DL, Phadke SR.
    Am J Med Genet A; 2018 Dec 25; 176(12):2896-2900. PubMed ID: 30548146
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  • 70. Sib pair with previously unreported skeletal dysplasia.
    Mégarbané A, Dagher R, Melki I.
    Am J Med Genet A; 2008 Nov 15; 146A(22):2916-9. PubMed ID: 18925669
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  • 71. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.
    Kwee ML, van de Sluijs JA, van Vugt JM, Wijnaendts LC, Gille JJ.
    Am J Med Genet A; 2004 Aug 01; 128A(4):404-9. PubMed ID: 15264287
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  • 74. Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
    Ferretti L, Mellis R, Chitty LS.
    Eur J Med Genet; 2019 Aug 01; 62(8):103663. PubMed ID: 31085342
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  • 75. A unique lethal spondylocostal metaphyseal dysplasia: a case report.
    Goldblatt J, Knowles S.
    Clin Dysmorphol; 1998 Apr 01; 7(2):115-8. PubMed ID: 9571281
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  • 76. Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.
    Powis Z, Chamberlin AC, Alamillo CL, Ceulemans S, Bird LM, Tang S.
    Pediatr Dev Pathol; 2018 Apr 01; 21(3):319-323. PubMed ID: 29187032
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  • 78. Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
    Liu Y, Wang L, Yang YK, Liang Y, Zhang TJ, Liang N, Yang LM, Li SJ, Shan D, Wu QQ.
    Diagn Pathol; 2019 Jul 13; 14(1):76. PubMed ID: 31299979
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  • 80. Fetal facial profile in Pallister-Killian syndrome.
    Liberati M, Melchiorre K, D'Emilio I, Guanciali-Franchi PE, Iezzi I, Rotmensch S, Celentano C.
    Fetal Diagn Ther; 2008 Jul 13; 23(1):15-7. PubMed ID: 17934292
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