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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

191 related items for PubMed ID: 23541344

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  • 26. Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction.
    Balasco N, Ruggiero A, Smaldone G, Pecoraro G, Coppola L, Pirone L, Pedone EM, Esposito L, Berisio R, Vitagliano L.
    Int J Biol Macromol; 2024 Oct; 277(Pt 4):134390. PubMed ID: 39111466
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  • 30. Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.
    Buller C, Xu X, Marquis V, Schwanke R, Xu PX.
    Hum Mol Genet; 2001 Nov 15; 10(24):2775-81. PubMed ID: 11734542
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  • 31. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
    Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H.
    Am J Med Genet A; 2009 Oct 15; 149A(10):2141-6. PubMed ID: 19764023
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  • 36. Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
    Titheradge HL, Patel C, Ragge NK.
    Clin Dysmorphol; 2015 Jan 15; 24(1):13-6. PubMed ID: 25325185
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  • 37. Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.
    Rodrigues RG.
    Clin Genet; 2007 Jun 15; 71(6):558-60. PubMed ID: 17539905
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  • 39. [Scalp-ear-nipple syndrome].
    Sonoda T.
    Ryoikibetsu Shokogun Shirizu; 2001 Jun 15; (34 Pt 2):606-7. PubMed ID: 11528920
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  • 40. A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
    Aliferis K, Stoetzel C, Pelletier V, Hellé S, Angioï-Duprez K, Vigneron J, Leheup B, Marion V, Dollfus H.
    Ophthalmic Genet; 2011 Nov 15; 32(4):250-5. PubMed ID: 21728810
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