Richard M. Pauli

Absence of predictable phenotypic expression in proximal 15q duplications

R. Pauli, G. Sekhon, Gurbax S. Sekhon, 1991, Clinical genetics.

Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

R. Pauli, N. Sobreira, M. Seong, 2015, Human mutation.

Tracheomalacia and bronchomalacia associated with larsen syndrome

R. Pauli, M. E. Peters, C. Green, 1988, Pediatric pulmonology.

Genetic heterogeneity in families with hereditary multiple exostoses.

G. Schellenberg, E. Wijsman, E. Puffenberger, 1993, American journal of human genetics.