Comparative behavior of ring chromosomes.

Por Kistenmacher, M L, Punnett, H H
Publicado em 1970

A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).

Por Tanaka, A, Punnett, H H, Suzuki, K
Publicado em 1990

Clinical manifestations of familial 13;18 translocation.

Por Blattner, W A, Kistenmacher, M L, Tsai, S, Punnett, H H, Giblett, E R
Publicado em 1980

Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype.

Por Gottlieb, S, Driscoll, D A, Punnett, H H, Sellinger, B, Emanuel, B S, Budarf, M L
Publicado em 1998

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Por Schnur, R E, Trask, B J, van den Engh, G, Punnett, H H, Kistenmacher, M, Tomeo, M A, Naids, R E, Nussbaum, R L
Publicado em 1989

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

Por Gustavsson, P, Garelli, E, Draptchinskaia, N, Ball, S, Willig, T N, Tentler, D, Dianzani, I, Punnett, H H, Shafer, F E, Cario, H, Ramenghi, U, Glomstein, A, Pfeiffer, R A, Goringe, A, Olivieri, N F, Smibert, E, Tchernia, G, Elinder, G, Dahl, N
Publicado em 1998

OA1 mutations and deletions in X-linked ocular albinism.

Por Schnur, R E, Gao, M, Wick, P A, Keller, M, Benke, P J, Edwards, M J, Grix, A W, Hockey, A, Jung, J H, Kidd, K K, Kistenmacher, M, Levin, A V, Lewis, R A, Musarella, M A, Nowakowski, R W, Orlow, S J, Pagon, R S, Pillers, D A, Punnett, H H, Quinn, G E, Tezcan, K, Wagstaff, J, Weleber, R G
Publicado em 1998