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Journal Abstract Search

121 related items for PubMed ID: 38910624

  • 1. A Novel Cyclin-Dependent Kinase 13 Variant and Unusual Association of Situs Inversus Partialis in a Child From Bahrain: A Case Report and Literature Review.
    Isa HM, Abdulla AM, Abdulla KM, Abdulnabi MJ, Khudhair ZA, Hubail ZJ, Busehail MY, Abdulrasool HA.
    Cureus; 2024 May; 16(5):e60970. PubMed ID: 38910624
    [Abstract] [Full Text] [Related]

  • 2. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
    Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.
    J Med Genet; 2018 Jan; 55(1):28-38. PubMed ID: 29021403
    [Abstract] [Full Text] [Related]

  • 3. Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review.
    Wojciechowska K, Kwaśny M, Pietrzyk A, Lejman M.
    Ann Agric Environ Med; 2024 Mar 25; 31(1):147-150. PubMed ID: 38549490
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
    Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.
    Genome Med; 2017 Aug 14; 9(1):73. PubMed ID: 28807008
    [Abstract] [Full Text] [Related]

  • 5. Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
    Cui X, Wu X, Wang H, Zhang S, Wang W, Jing X.
    Mol Genet Genomic Med; 2022 Feb 14; 10(2):e1863. PubMed ID: 35034425
    [Abstract] [Full Text] [Related]

  • 6. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.
    Clin Genet; 2018 May 14; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 7. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant.
    Gibbs M, Poulin A, Xi Y, Hashemi B.
    Case Rep Genet; 2023 May 14; 2023():3437706. PubMed ID: 37351084
    [Abstract] [Full Text] [Related]

  • 8. Incidental adult polysplenia with situs inversus, interrupted inferior vena cava with azygos continuation, patent ductus arteriosus, and aortic branches variations: a case report.
    Kwon SH, Shin SY.
    J Thorac Dis; 2018 Feb 14; 10(2):E138-E141. PubMed ID: 29607204
    [Abstract] [Full Text] [Related]

  • 9. Neonatal intra-atrial baffle repair for isolated ventricular inversion with left isomerism: a case report.
    Kuwahara Y, Takahashi Y, Komori Y, Kabuto N, Wada N.
    Surg Case Rep; 2020 Sep 29; 6(1):237. PubMed ID: 32990806
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
    Bae S, Yang A, Kim J, Lee HJ, Park HK.
    BMC Med Genomics; 2021 Dec 20; 14(1):297. PubMed ID: 34930245
    [Abstract] [Full Text] [Related]

  • 11. Transcatheter Closure of a Secundum Atrial Septal Defect with Deficient Aortic Rim Through the Left Internal Jugular Vein in a Child with Situs Inversus and Interrupted Inferior Vena Cava: Device's Choice Matters.
    Piccinelli E, Bautista-Rodriguez C, Aw TC, Bates O, Fraisse A.
    Pediatr Cardiol; 2021 Dec 20; 42(8):1879-1881. PubMed ID: 34561725
    [Abstract] [Full Text] [Related]

  • 12. A case of complete situs inversus.
    Marta MJ, Falcão LM, Saavedra JA, Ravara L.
    Rev Port Cardiol; 2003 Jan 20; 22(1):91-104. PubMed ID: 12712813
    [Abstract] [Full Text] [Related]

  • 13. [Mitral valve replacement in dextrocardia and situs inversus].
    Uchimuro T, Fukui T, Matsuyama S, Tabata M, Takanashi S.
    Kyobu Geka; 2012 Sep 20; 65(10):858-61. PubMed ID: 22940654
    [Abstract] [Full Text] [Related]

  • 14. [An experience of successful valve repair for acquired mitral and tricuspid regurgitation in dextrocardia, situs inversus, bilateral vena cava, and hemiazygos continuation].
    Kuki S, Yoshida K, Suzuki K, Matsumura R, Okuda A, Nakano S.
    Kyobu Geka; 1994 Nov 20; 47(12):1013-5. PubMed ID: 7990278
    [Abstract] [Full Text] [Related]

  • 15. Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.
    Liu F, Wu Y, Li Z, Wan R.
    Clin Chim Acta; 2022 Aug 01; 533():31-39. PubMed ID: 35709987
    [Abstract] [Full Text] [Related]

  • 16. High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
    Zodanu GKE, Hwang JH, Mehta Z, Sisniega C, Barsegian A, Kang X, Biniwale R, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defect BioCore Faculty, Grody WW, Van Arsdell GS, Nelson SF, Touma M.
    Int J Mol Sci; 2024 May 17; 25(10):. PubMed ID: 38791509
    [Abstract] [Full Text] [Related]

  • 17.
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  • 18. Percutaneous closure of ostium secundum atrial septal defect using left internal jugular vein access in a child with situs inversus and absence of inferior caval vein.
    Oliveira EC, Moura MAG, Almeida JA, Ribeiro ALP, Nascimento BR.
    Cardiol Young; 2019 Oct 17; 29(10):1310-1312. PubMed ID: 31475660
    [Abstract] [Full Text] [Related]

  • 19. Successful Transjugular Percutaneous Atrial Septal Defect Closure in a Dextrocardia Patient with Kartagener's Syndrome, Situs Inversus, Interrupted Inferior Vena Cava, and Bilateral Superior Vena Cava.
    Yücel İK, Aslan Çınar A, Sürücü M, Çelebi A.
    Anatol J Cardiol; 2023 Jan 17; 27(1):47-49. PubMed ID: 36680447
    [No Abstract] [Full Text] [Related]

  • 20. [Heterotaxia syndrome without congenital cardiac defects in dilated cardiomyopathy].
    Hildebrand H, Gunzenhauser D, Weber K, Frese W, Fröber R, Wetter D.
    Dtsch Med Wochenschr; 2007 Apr 27; 132(17):931-7. PubMed ID: 17447196
    [Abstract] [Full Text] [Related]

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