Bone dysplasias of infancy

Por Lachman, R. S.
Publicado em 1980

Reactions of salaried physicians to hospital decline.

Por Lachman, R, Noy, S
Publicado em 1996

Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis.

Por Gruber, H E, Lachman, R S, Rimoin, D L
Publicado em 1990

Diagnostic value of radiography in cases of perinatal death: a population based study

Por Olsen, O, Espeland, A, Maartmann-Moe, H, Lachman, R, Rosendahl, K
Publicado em 2003

Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis IVA

Por Hendriksz, C.J., Harmatz, P., Beck, M., Jones, S., Wood, T., Lachman, R., Gravance, C.G., Orii, T., Tomatsu, S.
Publicado em 2013

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Por Bogaert, R., Wilkin, D., Wilcox, W. R., Lachman, R., Rimoin, D., Cohn, D. H., Eyre, D. R.
Publicado em 1994

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

Por Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
Publicado no Clin Genet (2017)

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

Por Castriota-Scanderbeg, A, Mingarelli, R, Caramia, G, Osimani, P, Lachman, R S, Rimoin, D L, Wilcox, W R, Dallapiccola, B
Publicado em 1997

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Por Krakow, D, Reinker, K, Powell, B, Cantor, R, Priore, M A, Garber, A, Lachman, R S, Rimoin, D L, Cohn, D H
Publicado em 1998

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Por Mortier, G., Weis, M., Nuytinck, L., King, L., Wilkin, D., De Paepe, A., Lachman, R., Rimoin, D., Eyre, D., Cohn, D.
Publicado em 2000

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

Por Steiner, C, Ehtesham, N, Taylor, K, Sebald, E, Cantor, R, King, L, Guo, X, Hang, T, Hu, M, Cui, J, Friedman, B, Norato, D, Allanson, J, Honeywell, C, Mettler, G, Field, F, Lachman, R, Cohn, D, Krakow, D
Publicado em 2004

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Por Briggs, M D, Mortier, G R, Cole, W G, King, L M, Golik, S S, Bonaventure, J, Nuytinck, L, De Paepe, A, Leroy, J G, Biesecker, L, Lipson, M, Wilcox, W R, Lachman, R S, Rimoin, D L, Knowlton, R G, Cohn, D H
Publicado em 1998