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Annals of Clinical Biochemistry|March 1, 1992
Variation of sweat sodium and chloride with age in cystic fibrosis and normal populations: further investigations in equivocal casesJ M Kirk, M Keston, I McIntosh, et al.Journal of Medical Genetics|March 8, 2003
Nail patella syndrome: a review of the phenotype aided by developmental biologyE Sweeney, A Fryer, R Mountford, et al.The Journal of Pediatrics|January 1, 1988
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuriaD W Bartholomew, M L Batshaw, R H Allen, et al.Human Molecular Genetics|November 1, 1994
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasiaD J Wilkin, R Bogaert, R S Lachman, et al.Human Genetics|June 1, 1991
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21qC A Francomano, G R Cutting, M K McCormick, et al.Genomics|December 1, 1987
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagenC A Francomano, R M Liberfarb, T Hirose, et al.American Journal of Medical Genetics|November 1, 1992
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasiaJ T Hecht, S H Blanton, Y Wang, et al.European Journal of Human Genetics : EJHG|June 15, 2000
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndromeJ D Hamlington, M V Clough, J A Dunston, et al.American Journal of Human Genetics|September 14, 2001
Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivationB R Migeon, A K Chowdhury, J A Dunston, et al.Lancet (London, England)|April 12, 1997
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosisD M Moloney, S A Wall, G J Ashworth, et al.Pageof 17