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Page 1
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: kim ca. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 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.
372 results