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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Hoover-Fong JE, et al. Among authors: pauli rm. Genet Med. 2021 Aug;23(8):1498-1505. doi: 10.1038/s41436-021-01165-2. Epub 2021 May 18. Genet Med. 2021. PMID: 34006999 Free PMC article.
Foramen magnum stenosis in homozygous achondroplasia.
Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner ME, Shannon R, Pauli RM. Hecht JT, et al. Among authors: pauli rm. Eur J Pediatr. 1986 Dec;145(6):545-7. doi: 10.1007/BF02429060. Eur J Pediatr. 1986. PMID: 3816858
Achondroplasia: unexpected familial recurrence.
Reiser CA, Pauli RM, Hall JG. Reiser CA, et al. Among authors: pauli rm. Am J Med Genet. 1984 Oct;19(2):245-50. doi: 10.1002/ajmg.1320190206. Am J Med Genet. 1984. PMID: 6507475
Natural history study of hereditary multiple exostoses.
Wicklund CL, Pauli RM, Johnston D, Hecht JT. Wicklund CL, et al. Among authors: pauli rm. Am J Med Genet. 1995 Jan 2;55(1):43-6. doi: 10.1002/ajmg.1320550113. Am J Med Genet. 1995. PMID: 7702095
Genetic heterogeneity in multiple epiphyseal dysplasia.
Deere M, Blanton SH, Scott CI, Langer LO, Pauli RM, Hecht JT. Deere M, et al. Among authors: pauli rm. Am J Hum Genet. 1995 Mar;56(3):698-704. Am J Hum Genet. 1995. PMID: 7887425 Free PMC article.
167 results