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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

274 related items for PubMed ID: 28289185

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  • 25. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar; 77(3):410-419. PubMed ID: 33039432
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  • 27. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
    Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Oral-Facial-Digital Type I (OFDI) Collaborative Group.
    Hum Mutat; 2008 Oct; 29(10):1237-46. PubMed ID: 18546297
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  • 28. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
    Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, Bergmann C.
    Hum Mol Genet; 2022 Jul 21; 31(14):2295-2306. PubMed ID: 35137054
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  • 29. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
    Srivastava S, Manisha R, Dwivedi A, Agarwal H, Saxena D, Agrawal V, Mandal K.
    Fetal Pediatr Pathol; 2022 Dec 21; 41(6):1041-1051. PubMed ID: 34821546
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  • 32. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
    Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT.
    BMC Med Genet; 2016 Jan 04; 17():1. PubMed ID: 26729329
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  • 36. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.
    Diz P, Alvarez-Iglesias V, Feijoo JF, Limeres J, Seoane J, Tomás I, Carracedo A.
    Oral Dis; 2011 Sep 04; 17(6):610-4. PubMed ID: 21729220
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  • 38. Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
    Stembalska A, Rydzanicz M, Pollak A, Kostrzewa G, Stawinski P, Biela M, Ploski R, Smigiel R.
    Genes (Basel); 2021 Jul 16; 12(7):. PubMed ID: 34356094
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