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Results 1-10 of 96 (Search time: 0.08 seconds).
Issue DateTitleAuthor(s)
2018Detection of inherited mutations in Brazilian breast cancer patients using multi-gene panel testing.GUINDALINI, Rodrigo Santa Cruz; VIANA, Danilo; KITAJIMA, Joao Paulo; VALIM, Andre; SCHLESINGER, David; KOK, Fernando
2011Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndromeREIS, Andre F.; KANNENGIESSER, Caroline; JENNANE, Farida; MANNA, Thais Della; CHEURFA, Nadir; OUDIN, Claire; SAVOLDELLI, Roberta Diaz; OLIVEIRA, Carolina; GRANDCHAMP, Bernard; KOK, Fernando; VELHO, Gilberto
2018When multiple sclerosis and X-linked adrenoleukodystrophy are tangled A challenging casePAIVA, Anderson Rodrigues Brandao de; PUCCI FILHO, Carlos Rory; PORTO, Alan Monteiro; FELTRIN, Fabricio Stewan; KOK, Fernando; CAMARGO, Carlos Henrique Ferreira
2016Neurogenética em Cinco PerguntasKOK, Fernando
2013Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpointVALENTE, Kette D.; VARELA, Monica Castro; KOIFFMANN, Celia Priszkulnik; ANDRADE, Joaquina Queiroz; GROSSMANN, Rosi; KOK, Fernando; MARQUES-DIAS, Maria Joaquina
2012Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndromePESSOA, Andre Luiz Santos; MONTEIRO, Amanda do Vale; QUEIROZ, Rafael Fonseca de; MALVEIRA, George Linard; KOK, Fernando
2012Consanguineous unions and the burden of disability: A population-based study in communities of Northeastern BrazilWELLER, Mathias; TANIERI, Marina; PEREIRA, Josecleide Calixto; ALMEIDA, Ednno Dos Santos; KOK, Fernando; SANTOS, Silvana
2013A endogamia explicaria a elevada prevalência de deficiências em populações do Nordeste brasileiro?SANTOS, Silvana Cristina dos; MELO, Uira Souto; LOPES, Simone Silva dos Santos; WELLER, Mathias; KOK, Fernando
2018Characterization of The Brazilian ARSACS Phenotype: Clinical, Ophthalmological, Neuroimaging, and Genetic Features of Fourteen Cases.REZENDE FILHO, Flavio; PEDROSO, Jose Luiz; SALLUM, Juliana Maria; KOK, Fernando; FRANCA, Marcondes; VASCONCELLOS, Ingrid; MARQUES, Wilson; LOURENCO, Charles; GIUNTI, Paola; BARSOTTINI, Orlando
2019Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairmentRAMOS, Luiza L. P.; MONTEIRO, Fabiola P.; SAMPAIO, Leticia P. B.; COSTA, Larissa A.; RIBEIRO, Mara D. O.; FREITAS, Erika L.; KITAJIMA, Joao P.; KOK, Fernando