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Mutations in TITF-1 are associated with benign hereditary chorea.
Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Breedveld GJ, et al. Among authors: guala a. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878
A novel mutation and novel features in Nijmegen breakage syndrome.
Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L. Maraschio P, et al. Among authors: guala a. J Med Genet. 2001 Feb;38(2):113-7. doi: 10.1136/jmg.38.2.113. J Med Genet. 2001. PMID: 11288710 Free PMC article. No abstract available.
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: guala a. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
Skin picking disorder in 97 Italian and Spanish Cri du chat patients.
Spunton M, Guala A, Liverani ME, Medolago L, Tognon F, Casado F, Del Valle M, Porras J, Larrea I, Porta G, Albani G, Nevado J, Danesino C. Spunton M, et al. Among authors: guala a. Am J Med Genet A. 2019 Aug;179(8):1525-1530. doi: 10.1002/ajmg.a.61259. Epub 2019 Jun 12. Am J Med Genet A. 2019. PMID: 31187941
272 results