The Rare Third Branchial Cleft Cyst

Por Joshi, M.J., Provenzano, M.J., Smith, R.J.H., Sato, Y., Smoker, W.R.K.
Publicado no AJNR Am J Neuroradiol (2009)

2E4/Kaptin (KPTN) – a candidate gene for the hearing loss locus, DFNA4

Por BEARER, E. L., CHEN, A. F., CHEN, A. H., LI, Z., MARK, H.-F., SMITH, R. J. H., JACKSON, C. L.
Publicado em 2000

Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)

Por Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. H., Friderici, K. H.
Publicado em 2003

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Por Varga, R, Avenarius, M R, Kelley, P M, Keats, B J, Berlin, C I, Hood, L J, Morlet, T G, Brashears, S M, Starr, A, Cohn, E S, Smith, R J H, Kimberling, W J
Publicado em 2006

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

Por Thomas, C. P., Mansilla, M. A., Sompallae, R., Mason, S. O., Nishimura, C. J., Kimble, M. J., Campbell, C. A., Kwitek, A. E., Darbro, B. W., Stewart, Z. A., Smith, R. J. H.
Publicado no Am J Transplant (2016)

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit dise...

Por Abrera‐Abeleda, M A, Nishimura, C, Smith, J L H, Sethi, S, McRae, J L, Murphy, B F, Silvestri, G, Skerka, C, Józsi, M, Zipfel, P F, Hageman, G S, Smith, R J H
Publicado em 2006

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families

Por Lebeko, K., Sloan-Heggen, C. M., Noubiap, J. J. N., Dandara, C., Kolbe, D. L., Ephraim, S. S., Booth, K. T., Azaiez, H., Santos-Cortez, R. L. P., Leal, S. M., Smith, R. J. H., Wonkam, A.
Publicado no Clin Genet (2016)