The Rare Third Branchial Cleft Cyst

著者: Joshi, M.J., Provenzano, M.J., Smith, R.J.H., Sato, Y., Smoker, W.R.K.
出版年 AJNR Am J Neuroradiol (2009)

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

著者: BEARER, E. L., CHEN, A. F., CHEN, A. H., LI, Z., MARK, H.-F., SMITH, R. J. H., JACKSON, C. L.
出版事項 2000

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

著者: 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.
出版事項 2003

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

著者: 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
出版事項 2006

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

著者: 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.
出版年 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...

著者: 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
出版事項 2006

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

著者: 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.
出版年 Clin Genet (2016)