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Journal Abstract Search

166 related items for PubMed ID: 26384070

  • 41. [Clinical application of noninvasive prenatal diagnosis using cell free fetal DNA in maternal plasma].
    Hou QF, Wu D, Chu Y, Kang B, Liao SX, Yang YL, Zhang CY, Zhang JX, Wu G.
    Zhonghua Fu Chan Ke Za Zhi; 2012 Nov; 47(11):813-7. PubMed ID: 23302120
    [Abstract] [Full Text] [Related]

  • 42. Genotype-phenotype correlations in a fetus with Kleefstra syndrome.
    Wang X, Wu J, Pang M, Liu Y, Zhai J.
    Taiwan J Obstet Gynecol; 2024 Mar; 63(2):238-241. PubMed ID: 38485322
    [Abstract] [Full Text] [Related]

  • 43. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W.
    Prenat Diagn; 2006 Feb; 26(2):138-46. PubMed ID: 16470734
    [Abstract] [Full Text] [Related]

  • 44. Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects.
    López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E.
    Prenat Diagn; 2006 Jun; 26(6):577-80. PubMed ID: 16700088
    [Abstract] [Full Text] [Related]

  • 45. Kleefstra Syndrome.
    Aydin H, Bucak IH, Bagis H.
    J Coll Physicians Surg Pak; 2022 Apr; 32(4):S76-S78. PubMed ID: 35633020
    [Abstract] [Full Text] [Related]

  • 46. Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
    Marchese G, Rizzo F, Guacci A, Weisz A, Coppola G.
    Neurol Sci; 2016 May; 37(5):829-31. PubMed ID: 26792009
    [No Abstract] [Full Text] [Related]

  • 47. A structured assessment of motor function and behavior in patients with Kleefstra syndrome.
    Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB.
    Eur J Med Genet; 2016 Apr; 59(4):240-8. PubMed ID: 26808425
    [Abstract] [Full Text] [Related]

  • 48. Prenatal diagnosis of partial trisomy 10q (10q25.3-->qter) and partial monosomy 18q (18q23-->qter).
    Chen CP, Chern SR, Chang TY, Lee CC, Chen WL, Wang W.
    Prenat Diagn; 2005 Nov; 25(11):1069-71. PubMed ID: 16302165
    [No Abstract] [Full Text] [Related]

  • 49. [Risk of missed diagnosis of 22q11.2 deletion in a fetal cardiac conotruncal malformation when another chromosomal abnormality is detected].
    Picone O, Brisset S, Senat MV, Maurin ML, Frydman R, Tachdjian G.
    J Gynecol Obstet Biol Reprod (Paris); 2008 May; 37(3):299-301. PubMed ID: 18160230
    [Abstract] [Full Text] [Related]

  • 50. Second-trimester genetic amniocentesis: 5-year experience.
    Turhan NO, Eren U, Seçkin NC.
    Arch Gynecol Obstet; 2005 Jan; 271(1):19-21. PubMed ID: 15290165
    [Abstract] [Full Text] [Related]

  • 51. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
    Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR.
    Prenat Diagn; 2007 Dec; 27(12):1112-7. PubMed ID: 17849500
    [Abstract] [Full Text] [Related]

  • 52. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
    Ciaccio C, Scuvera G, Tucci A, Gentilin B, Baccarin M, Marchisio P, Avignone S, Milani D.
    Cytogenet Genome Res; 2018 Dec; 156(3):127-133. PubMed ID: 30448833
    [Abstract] [Full Text] [Related]

  • 53. Noninvasive prenatal cell-free fetal DNA-based screening for aneuploidies other than trisomy 21.
    Blue Cross Blue Shield Asssociation.
    Technol Eval Cent Assess Program Exec Summ; 2014 Dec; 29(7):1-7. PubMed ID: 25577816
    [No Abstract] [Full Text] [Related]

  • 54. Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome.
    Canda MT, Demir N, Bal FU, Doganay L, Sezer O.
    J Obstet Gynaecol Res; 2012 Apr; 38(4):737-40. PubMed ID: 22380655
    [Abstract] [Full Text] [Related]

  • 55. Two years of mid-trimester amniocentesis in Johannesburg.
    Kromberg J, Bernstein R, Jenkins T, Bernstein J, Goudie EG, Sneider P.
    S Afr Med J; 1980 Jun 21; 57(25):1031-9. PubMed ID: 7190735
    [Abstract] [Full Text] [Related]

  • 56. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].
    Pusceddu M, Bertone A, Campra D, Pontoriero D, Guala A.
    Minerva Pediatr; 2002 Aug 21; 54(4):343-5. PubMed ID: 12131871
    [No Abstract] [Full Text] [Related]

  • 57. [Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].
    Luo CY, Ma DY, Zhang JJ, Hu P, Cao L, Ji XQ, Zhou J, Liu A, Wu Y, Cheng J, Lin Y, Xu ZF.
    Zhonghua Fu Chan Ke Za Zhi; 2013 Nov 21; 48(11):824-7. PubMed ID: 24444558
    [Abstract] [Full Text] [Related]

  • 58. [Serum screening of fetal chromosome abnormality during second pregnancy trimester: results of 26,803 pregnant women in Jiangsu Province].
    Hu YL, Birth Defect Intervention Group of Jiangsu Province.
    Zhonghua Yi Xue Za Zhi; 2007 Sep 18; 87(35):2476-80. PubMed ID: 18067809
    [Abstract] [Full Text] [Related]

  • 59. Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-marker screen positive results.
    Chen CP, Chern SR, Liu FF, Jan SW, Lee CC, Chang YC, Yue CT.
    Prenat Diagn; 1997 Jun 18; 17(6):571-6. PubMed ID: 9203216
    [Abstract] [Full Text] [Related]

  • 60. Technique for midtrimester amniocentesis for prenatal diagnosis.
    Gerbie AB, Elias S.
    Semin Perinatol; 1980 Jul 18; 4(3):159-63. PubMed ID: 7414343
    [No Abstract] [Full Text] [Related]

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