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Journal Abstract Search

70 related items for PubMed ID: 37351084

  • 1. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant.
    Gibbs M, Poulin A, Xi Y, Hashemi B.
    Case Rep Genet; 2023; 2023():3437706. PubMed ID: 37351084
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  • 2. 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
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  • 3. 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 25; 93(5):1000-1007. PubMed ID: 29393965
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  • 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
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  • 5. 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 14; 16(5):e60970. PubMed ID: 38910624
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 7. 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 14; 55(1):28-38. PubMed ID: 29021403
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  • 8. Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder.
    Cui D, Wang S, Zhang A, Liu A, Hu Q.
    Front Genet; 2022 Jan 14; 13():858668. PubMed ID: 35651941
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  • 16. One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
    Yakubov R, Ayman A, Kremer AK, van den Akker M.
    J Med Case Rep; 2019 Dec 29; 13(1):386. PubMed ID: 31883531
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  • 17. Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.
    Hague J, Twiss P, Mead Z, Park SM.
    Pediatr Dev Pathol; 2019 Oct 29; 22(5):475-479. PubMed ID: 30890023
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  • 18. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
    Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, Deciphering Developmental Disorders StudyDeciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK., van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.
    Am J Hum Genet; 2019 Apr 04; 104(4):709-720. PubMed ID: 30905399
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  • 19. Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion.
    Cong Y, Jin H, Wu K, Wang H, Wang D.
    Front Genet; 2022 Apr 04; 13():900226. PubMed ID: 36046249
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  • 20. Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
    Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J, Care4Rare Canada ConsortiumCHEO Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM.
    Am J Med Genet A; 2019 May 04; 179(5):813-816. PubMed ID: 30838783
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