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276 results
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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Varela MC, et al. Among authors: kim ca. Clin Genet. 2005 Jan;67(1):47-52. doi: 10.1111/j.1399-0004.2005.00377.x. Clin Genet. 2005. PMID: 15617548
Genomic imbalances associated with mullerian aplasia.
Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C. Cheroki C, et al. Among authors: kim ca. J Med Genet. 2008 Apr;45(4):228-32. doi: 10.1136/jmg.2007.051839. Epub 2007 Nov 26. J Med Genet. 2008. PMID: 18039948
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Azevedo AC, et al. Among authors: kim ca. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318
Chromosome imbalances in syndromic hearing loss.
Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: kim ca. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, van Bokhoven H. Bertola DR, et al. Among authors: kim ca. Clin Genet. 2004 Jul;66(1):79-80. doi: 10.1111/j.0009-9163.2004.00278.x. Clin Genet. 2004. PMID: 15200513 No abstract available.
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Petit F, et al. Among authors: kim ca. Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12. Clin Genet. 2014. PMID: 24003905
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?
Bertola DR, Pereira AC, Brasil AC, Suzuki L, Leite C, Falzoni R, Tannuri U, Poplawski AB, Janowski KM, Kim CA, Messiaen LM. Bertola DR, et al. Among authors: kim ca. Clin Genet. 2012 Jun;81(6):595-7. doi: 10.1111/j.1399-0004.2011.01764.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22211815 No abstract available.
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. Marcelino J, et al. Among authors: kim ca. Nat Genet. 1999 Nov;23(3):319-22. doi: 10.1038/15496. Nat Genet. 1999. PMID: 10545950
Infantile sialic acid storage disease: report of the first case in South America.
Utagawa CY, Sugayama SM, Ribeiro EM, Bertola DR, Baba ER, Burin MG, Lewis E, Coelho HC, Fensom AH, Marques-Dias MJ, Gonzales CH, Kim CA, Giugliani R. Utagawa CY, et al. Among authors: kim ca. Clin Genet. 1999 May;55(5):386-7. Clin Genet. 1999. PMID: 10422814 No abstract available.
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO. Mavrogiannis LA, et al. Among authors: kim ca. Nat Genet. 2001 Jan;27(1):17-8. doi: 10.1038/83703. Nat Genet. 2001. PMID: 11137991
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