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Journal Abstract Search

199 related items for PubMed ID: 30948858

  • 21. [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].
    Demily C, Rossi M, Schneider M, Edery P, Leleu A, d'Amato T, Franck N, Eliez S.
    Encephale; 2015 Jun; 41(3):266-73. PubMed ID: 25523123
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  • 23. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
    Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM.
    Am J Med Genet A; 2017 Jan; 173(1):135-142. PubMed ID: 27682988
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  • 24. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
    Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D.
    Genet Med; 2020 Feb; 22(2):326-335. PubMed ID: 31474763
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  • 26. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
    Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA.
    Am J Med Genet A; 2004 Jan 30; 124A(3):313-7. PubMed ID: 14708107
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  • 30. The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
    Wonkam A, Toko R, Chelo D, Tekendo-Ngongang C, Kingue S, Dahoun S.
    Glob Heart; 2017 Jun 30; 12(2):115-120. PubMed ID: 28302550
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  • 31. [Advance of research on 22q11.2 deletion syndrome].
    Zhou H, Weng X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug 10; 41(8):994-1000. PubMed ID: 39097286
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  • 37. 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.
    Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM.
    Epilepsia; 2017 Jun 10; 58(6):1095-1101. PubMed ID: 28448680
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  • 39. High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.
    Vergaelen E, Claes S, Kempke S, Swillen A.
    Am J Med Genet A; 2017 Apr 10; 173(4):858-867. PubMed ID: 28190295
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  • 40. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.
    Souto Filho JTD, Ribeiro HAA, Fassbender IPB, Ribeiro JMMC, Ferreira Júnior WDS, Figueiredo LCS.
    Blood Coagul Fibrinolysis; 2019 Dec 10; 30(8):423-425. PubMed ID: 31738289
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