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Results 1-10 of 96 (Search time: 0.243 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2018 | Detection 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 |
| 2011 | Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome | REIS, Andre F.; KANNENGIESSER, Caroline; JENNANE, Farida; MANNA, Thais Della; CHEURFA, Nadir; OUDIN, Claire; SAVOLDELLI, Roberta Diaz; OLIVEIRA, Carolina; GRANDCHAMP, Bernard; KOK, Fernando; VELHO, Gilberto |
| 2018 | When multiple sclerosis and X-linked adrenoleukodystrophy are tangled A challenging case | PAIVA, Anderson Rodrigues Brandao de; PUCCI FILHO, Carlos Rory; PORTO, Alan Monteiro; FELTRIN, Fabricio Stewan; KOK, Fernando; CAMARGO, Carlos Henrique Ferreira |
| 2016 | Neurogenética em Cinco Perguntas | KOK, Fernando |
| 2013 | Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint | VALENTE, Kette D.; VARELA, Monica Castro; KOIFFMANN, Celia Priszkulnik; ANDRADE, Joaquina Queiroz; GROSSMANN, Rosi; KOK, Fernando; MARQUES-DIAS, Maria Joaquina |
| 2012 | Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome | PESSOA, Andre Luiz Santos; MONTEIRO, Amanda do Vale; QUEIROZ, Rafael Fonseca de; MALVEIRA, George Linard; KOK, Fernando |
| 2012 | Consanguineous unions and the burden of disability: A population-based study in communities of Northeastern Brazil | WELLER, Mathias; TANIERI, Marina; PEREIRA, Josecleide Calixto; ALMEIDA, Ednno Dos Santos; KOK, Fernando; SANTOS, Silvana |
| 2013 | A 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 |
| 2018 | Characterization 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 |
| 2019 | Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment | RAMOS, 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 |
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