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Human Mutation|January 1, 1997
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patientK Takayama, D M Danks, E P Salazar, et al.
American Journal of Medical Genetics|February 1, 1990
Geleophysic dysplasiaJ E Wraith, A Bankier, C W Chow, et al.
Prenatal Diagnosis|May 1, 1995
New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined populationJ L Halliday, L F Watson, J Lumley, et al.
European Journal of Pediatrics|October 1, 1988
Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conceptionB C Lynch, D B Pitt, T G Maddison, et al.
Acta Neuropathologica|January 1, 1985
Congenital absence of pyramids and its significance in genetic diseasesC W Chow, J L Halliday, R M Anderson, et al.
The Journal of Investigative Dermatology|March 1, 1996
Hairs from patients with maple syrup urine disease show a structural defect in the fiber cuticleL N Jones, D J Peet, D M Danks, et al.
Biomedical Mass Spectrometry|July 1, 1979
The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemiaR J Truscott, C J Pullin, B Halpern, et al.
Biochimica Et Biophysica Acta|October 21, 1991
Developmental variation in copper, zinc and metallothionein mRNA in brindled mutant and nutritionally copper deficient miceJ F Mercer, T Stevenson, S A Wake, et al.
Biological Trace Element Research|November 1, 1989
The effect of tetrathiomolybdate on the metabolism of copper by hepatocytes and fibroblastsH J McArdle, S M Gross, H M Vogel, et al.
The Journal of Pediatrics|November 1, 1992
Charting infant distress: an aid to defining colicD J Hill, S Menahem, I Hudson, et al.
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