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American Journal of Medical Genetics|August 10, 1999
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndromeR Savarirayan, E M Thompson, K J Abbott, et al.Journal of Medical Genetics|July 25, 1998
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotypeR Savarirayan, A BankierArchives of Disease in Childhood|September 23, 2003
Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117HL Curnow, R Savarirayan, J MassieJournal of Medical Genetics|September 11, 1998
Baller-Gerold syndrome associated with congenital portal venous malformationR Savarirayan, P Tomlinson, E ThompsonAmerican Journal of Medical Genetics|March 8, 2000
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instabilityS Freddi, R Savarirayan, J F BatemanThe Journal of Pediatrics|February 5, 2004
IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal developmentC C Pedreira, R Savarirayan, Margaret R ZacharinOral Diseases|March 6, 2003
Amelogenesis imperfecta: a classification and catalogue for the 21st centuryM J Aldred, R Savarirayan, P J M CrawfordClinical Genetics|May 9, 2008
The skeletal manifestations of the congenital disorders of glycosylationD Coman, M Irving, P Kannu, et al.Clinical Genetics|May 20, 2003
It's only teeth - are there limits to genetic testing?M Aldred, P J M Crawford, R Savarirayan, et al.American Journal of Medical Genetics|March 17, 1999
An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvementS P Robertson, R Dickens, R Savarirayan, et al.Pageof 13