The Rare Third Branchial Cleft Cyst

af Joshi, M.J., Provenzano, M.J., Smith, R.J.H., Sato, Y., Smoker, W.R.K.
Udgivet i AJNR Am J Neuroradiol (2009)

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

af BEARER, E. L., CHEN, A. F., CHEN, A. H., LI, Z., MARK, H.-F., SMITH, R. J. H., JACKSON, C. L.
Udgivet 2000

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

af 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.
Udgivet 2003

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

af 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
Udgivet 2006

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

af 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.
Udgivet i 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...

af 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
Udgivet 2006

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

af 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.
Udgivet i Clin Genet (2016)