R. A. Cucci

发表

The M34T allele variant of connexin 26.

G. Green, G. Van Camp, P. M. Kelley, 2000, Genetic testing.

Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences

Richard J. H. Smith, N. Meyer, V. Vervoort, 2004, Human mutation.

Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations

R. Trembath, Richard J. H. Smith, G. Camp, 2004, American journal of medical genetics. Part A.

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations

V. Sheffield, G. Green, R. A. Cucci, 2001, Human mutation.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

K Cryns, G Van Camp, P J Govaerts, 2004, Journal of Medical Genetics.

GJB2 mutations in Iranians with autosomal recessive non‐syndromic sensorineural hearing loss

M. Farhadi, K. Kahrizi, H. Najmabadi, 2002, Human mutation.

A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment

G. Taylor, E. Fransen, P. Coucke, 2001, Journal of medical genetics.

Connexin-26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness in the Iranian population

Y. Riazalhosseini, M. Farhadi, K. Kahrizi, 2003 .

Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness‐causing mutations (R32C and 645‐648delTAGA)

G. Green, R. A. Cucci, S. Prasad, 2000, Human mutation.

Clinical presentation of DFNB1.

Richard J. H. Smith, G. Green, W. McGuirt, 2002, Advances in oto-rhino-laryngology.

Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness‐causing mutations (R32C and 645‐648delTAGA)

G. Green, R. A. Cucci, S. Prasad, 2000, Human mutation.