| HPV involvement in head and neck cancers: comprehensive assessment of biomarkers in 3680 patients X Castellsagué, L Alemany, M Quer, G Halec, B Quirós, S Tous, ... Journal of the National Cancer Institute 108 (6), djv403, 2016 | 823 | 2016 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 525 | 2015 |
| Epiodemiology of urticaria in Spain P Gaig, M Olona, DM Lejarazu, MT Caballero, FJ Domínguez, ... Journal of Investigational Allergology and Clinical Immunology 14, 214-220, 2004 | 474 | 2004 |
| De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 303 | 2015 |
| Microstructural study of sulfate attack on ordinary and limestone Portland cements at ambient temperature EF Irassar, VL Bonavetti, M González Cement and Concrete Research 33 (1), 31-41, 2003 | 302 | 2003 |
| PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 238 | 2014 |
| Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ... The American Journal of Human Genetics 91 (6), 1051-1064, 2012 | 224 | 2012 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 221 | 2015 |
| Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia E Martin, R Schüle, K Smets, A Rastetter, A Boukhris, JL Loureiro, ... The American Journal of Human Genetics 92 (2), 238-244, 2013 | 204 | 2013 |
| A non-chromate conversion coating for magnesium alloys and magnesium-based metal matrix composites MA Gonzalez-Nunez, CA Nunez-Lopez, P Skeldon, GE Thompson, ... Corrosion Science 37 (11), 1763-1772, 1995 | 204 | 1995 |
| Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ... The American Journal of Human Genetics 93 (1), 118-123, 2013 | 195 | 2013 |
| Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, ... Brain 137 (1), 44-56, 2014 | 194 | 2014 |
| Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia EC Oates, AM Rossor, M Hafezparast, M Gonzalez, F Speziani, ... The American Journal of Human Genetics 92 (6), 965-973, 2013 | 191 | 2013 |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 191 | 2012 |
| The philosophy of praxis AS Vazquez, M Gonzalez | 179 | 1977 |
| Manatí M González, G Bravo | 174 | 2007 |
| Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss O Diaz-Horta, D Duman, J Foster, A Sırmacı, M Gonzalez, N Mahdieh, ... PloS one 7 (11), e50628, 2012 | 173 | 2012 |
| Effects of mid-summer transport duration on pre-and post-slaughter performance and pork quality in Mexico D Mota-Rojas, M Becerril, C Lemus, P Sánchez, M González, SA Olmos, ... Meat Science 73 (3), 404-412, 2006 | 167 | 2006 |
| Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 M Gonzalez, H McLaughlin, H Houlden, M Guo, L Yo-Tsen, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (11), 1247-1249, 2013 | 157 | 2013 |
| A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease MA Gonzalez, SM Feely, F Speziani, AV Strickland, M Danzi, C Bacon, ... Brain 137 (11), 2897-2902, 2014 | 153 | 2014 |
Adriana RebeloUniversity of MiamiEmail yang diverifikasi di med.miami.edu
