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Journal Abstract Search

147 related items for PubMed ID: 31910817

  • 41. Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.
    Kucinska-Chahwan AM, Roszkowski T, Geremek M, Paczkowska MA, Ciebiera M, Bijok J, Massalska D, Panek G, Siemion K, Nowakowska BA.
    Ginekol Pol; 2021; 92(1):51-56. PubMed ID: 33448012
    [Abstract] [Full Text] [Related]

  • 42. Marshall-Smith syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2015 Apr; 35(4):307-9. PubMed ID: 25813678
    [No Abstract] [Full Text] [Related]

  • 43. Skeletal dysplasias: 38 prenatal cases.
    Witters I, Moerman P, Fryns JP.
    Genet Couns; 2008 Apr; 19(3):267-75. PubMed ID: 18990981
    [Abstract] [Full Text] [Related]

  • 44. Prenatal diagnosis of boomerang dysplasia.
    Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ.
    Am J Med Genet A; 2003 Oct 01; 122A(2):148-54. PubMed ID: 12955767
    [Abstract] [Full Text] [Related]

  • 45. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
    Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI.
    Acta Obstet Gynecol Scand; 2021 Jun 01; 100(6):1106-1115. PubMed ID: 33249554
    [Abstract] [Full Text] [Related]

  • 46. Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.
    Zhu L, Cao D, Chen M, Zhang H, Sun X, Liu W.
    BMC Med Genomics; 2022 Jan 29; 15(1):16. PubMed ID: 35093090
    [Abstract] [Full Text] [Related]

  • 47. Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).
    Das S, Sharma C, Gothwal M, Tada N.
    BMJ Case Rep; 2022 Sep 19; 15(9):. PubMed ID: 36123010
    [Abstract] [Full Text] [Related]

  • 48.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 49. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
    Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L.
    Prenat Diagn; 2018 Aug 19; 38(9):692-699. PubMed ID: 29907962
    [Abstract] [Full Text] [Related]

  • 50. Molecular testing strategies in the evaluation of fetal skeletal dysplasia.
    Jelin AC, Blakemore K, Trebes S, Sagaser K, Forster KR, Russo M, Hoover-Fong J.
    J Matern Fetal Neonatal Med; 2022 Jul 19; 35(14):2788-2794. PubMed ID: 32752906
    [Abstract] [Full Text] [Related]

  • 51. The postnatal features of bent bone dysplasia-FGFR2 type.
    Scott RH, Meaney C, Jenkins L, Calder A, Hurst JA.
    Clin Dysmorphol; 2014 Jan 19; 23(1):8-11. PubMed ID: 24300289
    [No Abstract] [Full Text] [Related]

  • 52. A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
    Panzer KM, Lachman R, Modaff P, Pauli RM.
    Am J Med Genet A; 2008 Nov 15; 146A(22):2920-4. PubMed ID: 18925670
    [Abstract] [Full Text] [Related]

  • 53. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
    Zhu X, Gao Z, Wang Y, Huang W, Li Q, Jiao Z, Liu N, Kong X.
    Ultrasound Obstet Gynecol; 2022 Dec 15; 60(6):780-792. PubMed ID: 35726512
    [Abstract] [Full Text] [Related]

  • 54. Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
    Greenbaum L, Gilboa Y, Raas-Rothschild A, Barel O, Kol N, Reznik-Wolf H, Pode-Shakked B, Finezilber Y, Messing B, Berkenstadt M.
    Eur J Med Genet; 2019 Mar 15; 62(3):167-171. PubMed ID: 30006055
    [Abstract] [Full Text] [Related]

  • 55. Parental perceptions of prenatal whole exome sequencing (PPPWES) study.
    Wou K, Weitz T, McCormack C, Wynn J, Spiegel E, Giordano J, Wapner RJ, Chung WK.
    Prenat Diagn; 2018 Oct 15; 38(11):801-811. PubMed ID: 30035818
    [Abstract] [Full Text] [Related]

  • 56. Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.
    Illescas T, Mansilla E, Herrero B, Rodríguez R, López F, Aza-Carmona M, Regojo RM, Santos-Simarro F, Heath KE, Bartha JL, Antolín E.
    Eur J Obstet Gynecol Reprod Biol; 2020 Jul 15; 250():209-215. PubMed ID: 32470698
    [Abstract] [Full Text] [Related]

  • 57. Prenatal diagnosis of the skeletal dysplasias.
    Sharony R, Browne C, Lachman RS, Rimoin DL.
    Am J Obstet Gynecol; 1993 Sep 15; 169(3):668-75. PubMed ID: 8372878
    [Abstract] [Full Text] [Related]

  • 58. Chiari type I malformation caused by craniometaphyseal dysplasia.
    Tanaka M, Arataki S, Sugimoto Y, Takigawa T, Tetsunaga T, Ozaki T.
    Acta Med Okayama; 2013 Sep 15; 67(6):385-9. PubMed ID: 24356723
    [Abstract] [Full Text] [Related]

  • 59. Lethal Skeletal Dysplasia in Fetus With Novel COL1A1 Variant.
    Wang MJ, Schioppo D, Donovan BM, Febres-Cordero DA, Connolly S, Robinson J, Duffy CR.
    Prenat Diagn; 2024 Oct 15; 44(11):1412-1415. PubMed ID: 39198999
    [No Abstract] [Full Text] [Related]

  • 60. Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.
    Nguyen DQ, Can TBN, Vu CD, Tran TAT, Nguyen NL, Nguyen TKL, Nguyen VT, Nguyen TH, Tran THG, Nguyen HH.
    Medicine (Baltimore); 2024 Sep 06; 103(36):e39509. PubMed ID: 39252318
    [Abstract] [Full Text] [Related]

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