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Journal Abstract Search

166 related items for PubMed ID: 26384070

  • 21. Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.
    Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S.
    Pediatr Neurol; 2014 Jul; 51(1):170-5. PubMed ID: 24938147
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  • 22. [Study on key techniques and intervention in reducing birth defects].
    Zhu BS, Su J, Lu XH, He J, Zhu S, Jiao CX, Zhang JM, Tang XH, Tao Y, Lin KP, Chen H, Li SY.
    Zhonghua Fu Chan Ke Za Zhi; 2011 Sep; 46(9):658-63. PubMed ID: 22176989
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  • 23. Otopathology in Kleefstra Syndrome: A Case Report.
    Okayasu T, Quesnel AM, Reinshagen KL, Nadol JB.
    Laryngoscope; 2020 Aug; 130(8):2028-2033. PubMed ID: 31750954
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  • 24. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
    Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, Wang T, Yang Y, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):849-852. PubMed ID: 29188614
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  • 27. [Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester].
    Zhang YP, Wu JP, Li XT, Lei CX, Xu JZ, Yin M.
    Zhonghua Fu Chan Ke Za Zhi; 2011 Sep 10; 46(9):644-8. PubMed ID: 22176986
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  • 28. Rare autosomal trisomies on non-invasive prenatal testing: not as adverse as expected.
    He Y, Liu YH, Xie RG, Liu SA, Li DZ.
    Ultrasound Obstet Gynecol; 2019 Dec 10; 54(6):838-839. PubMed ID: 30887590
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  • 33. Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction.
    Lin YH, Chen CP, Chen TC, Hsu CS, Chou SY, Chien SC.
    Taiwan J Obstet Gynecol; 2011 Dec 10; 50(4):528-30. PubMed ID: 22212331
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  • 34. Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation.
    Cheema HA, Waheed N, Saeed A.
    J Coll Physicians Surg Pak; 2022 Feb 10; 32(2):236-238. PubMed ID: 35108799
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  • 38. [Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].
    Wang SJ, Gao ZY, Lu YP, Li YL, You YQ, Zhang LW, Wang LX, Xu H.
    Zhonghua Fu Chan Ke Za Zhi; 2012 Nov 10; 47(11):808-12. PubMed ID: 23302119
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  • 39. The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.
    Da Cás E, Pires LVL, Linnenkamp BDW, Allegro MC, Honjo RS, Bertola DR, Aoi H, Matsumoto N, Kim CA.
    Eur J Med Genet; 2024 Oct 10; 71():104966. PubMed ID: 39147273
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  • 40. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Oct 10; 57(11-12):654-8. PubMed ID: 25230004
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