Bibliotecas PUC-SP - Busca Integrada

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

par Brown, K A, al-Gazali, L I, Moynihan, L M, Lench, N J, Markham, A F, Mueller, R F
Publié 1997

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

par Moynihan, L M, Bundey, S E, Heath, D, Jones, E L, McHale, D P, Mueller, R F, Markham, A F, Lench, N J
Publié 1998

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

par Campbell, D A, McHale, D P, Brown, K A, Moynihan, L M, Houseman, M, Karbani, G, Parry, G, Janjua, A H, Newton, V, al-Gazali, L, Markham, A F, Lench, N J, Mueller, R F
Publié 1997