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PUBMED FOR HANDHELDS

Journal Abstract Search

169 related items for PubMed ID: 35034425

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  • 23. A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.
    Yang L, Yang F.
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1496. PubMed ID: 32926520
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  • 27. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant.
    Gibbs M, Poulin A, Xi Y, Hashemi B.
    Case Rep Genet; 2023 Nov; 2023():3437706. PubMed ID: 37351084
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  • 30. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
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  • 31. 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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  • 33. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
    Al-Hamed MH, Alsahan N, Tulbah M, Kurdi W, Ali W, Sayer JA, Imtiaz F.
    Genes (Basel); 2020 Aug 20; 11(9):. PubMed ID: 32825426
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  • 34. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
    El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JSK, Faivre L.
    Eur J Hum Genet; 2016 Jan 20; 25(1):43-51. PubMed ID: 27804958
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  • 36. Expanding the phenotype of TAB2 variants and literature review.
    Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M.
    Am J Med Genet A; 2022 Nov 20; 188(11):3331-3342. PubMed ID: 35971781
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  • 38. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
    Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.
    Am J Hum Genet; 2018 Dec 06; 103(6):948-967. PubMed ID: 30526868
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  • 39. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
    Ben-Mahmoud A, Al-Shamsi AM, Ali BR, Al-Gazali L.
    J Mol Neurosci; 2020 Mar 06; 70(3):320-327. PubMed ID: 31721002
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