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Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: kim ca. Am J Hum Genet. 2014 Jan 2;94(1):113-9. doi: 10.1016/j.ajhg.2013.11.022. Am J Hum Genet. 2014. PMID: 24387991 Free PMC article.
Clinical and radiological aspects in Melnick-Needles syndrome.
Albano LM, Kim CA, Lee VK, Sugayama SM, Barba MF, Utagawa CY, Bertola D, Gonzalez CH. Albano LM, et al. Among authors: kim ca. Rev Hosp Clin Fac Med Sao Paulo. 1999 Mar-Apr;54(2):69-72. doi: 10.1590/s0041-87811999000200007. Rev Hosp Clin Fac Med Sao Paulo. 1999. PMID: 10513069
Further delineation of Char syndrome.
Bertola DR, Kim CA, Sugayama SM, Utagawa CY, Albano LM, Gonzalez CH. Bertola DR, et al. Among authors: kim ca. Pediatr Int. 2000 Feb;42(1):85-8. doi: 10.1046/j.1442-200x.2000.01158.x. Pediatr Int. 2000. PMID: 10703243 No abstract available.
Noonan syndrome: a clinical and genetic study of 31 patients.
Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH. Bertola DR, et al. Among authors: kim ca. Rev Hosp Clin Fac Med Sao Paulo. 1999 Sep-Oct;54(5):147-50. doi: 10.1590/s0041-87811999000500003. Rev Hosp Clin Fac Med Sao Paulo. 1999. PMID: 10788835
Cardiac findings in 31 patients with Noonan's syndrome.
Bertola DR, Kim CA, Sugayama SM, Albano LM, Wagenführ J, Moysés RL, Gonzalez CH. Bertola DR, et al. Among authors: kim ca. Arq Bras Cardiol. 2000 Nov;75(5):409-12. doi: 10.1590/s0066-782x2000001100005. Arq Bras Cardiol. 2000. PMID: 11080752 Free article.
Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.
Albano LM, Zatz M, Kim CA, Bertola D, Sugayama SM, Marques-Dias MJ, Kok F, Ferraretto I, Rosemberg S, Cocozza S, Monticelli A. Albano LM, et al. Among authors: kim ca. Rev Hosp Clin Fac Med Sao Paulo. 2001 Sep-Oct;56(5):143-8. doi: 10.1590/s0041-87812001000500003. Rev Hosp Clin Fac Med Sao Paulo. 2001. PMID: 11781594
Hematological findings in Noonan syndrome.
Bertola DR, Carneiro JD, D'Amico EA, Kim CA, Albano LM, Sugayama SM, Gonzalez CH. Bertola DR, et al. Among authors: kim ca. Rev Hosp Clin Fac Med Sao Paulo. 2003 Jan-Feb;58(1):5-8. doi: 10.1590/s0041-87812003000100002. Epub 2003 Apr 30. Rev Hosp Clin Fac Med Sao Paulo. 2003. PMID: 12754583
371 results