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Journal of Pediatric Orthopedics|September 17, 1999
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucomaF A Farley, P R Lichter, C A Downs, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 31, 2003
A study of linkage and association of body mass index in the Old Order AmishP Platte, G J Papanicolaou, J Johnston, et al.
Human Genetics|September 1, 1990
The haplotype distribution of the delta F508 mutation in cystic fibrosis families in ScotlandI McIntosh, A Curtis, M L Lorenzo, et al.
Computer Assisted Surgery (Abingdon, England)|October 18, 2023
Improving alignment in total knee arthroplasty: a cadaveric assessment of a surgical navigation tool with computed tomography imagingKelly A Foley, Ran Schwarzkopf, Brian M Culp, et al.
American Journal of Medical Genetics|November 7, 1998
Correlation of linkage data with phenotype in eight families with Stickler syndromeD J Wilkin, G R Mortier, C L Johnson, et al.
The Journal of Clinical Investigation|October 15, 1996
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selectionY Jin, H C Dietz, R A Montgomery, et al.
Clinical Science (London, England : 1979)|January 1, 1992
Increased energy expenditure in cystic fibrosis is associated with specific mutationsA O'Rawe, I McIntosh, J A Dodge, et al.
American Journal of Human Genetics|June 23, 1998
Evidence that a locus for familial high myopia maps to chromosome 18pT L Young, S M Ronan, L A Drahozal, et al.
American Journal of Human Genetics|October 31, 2000
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotypeG A Bellus, E B Spector, P W Speiser, et al.
Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.
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