selected scholarly activity
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journal articles
- Evaluation of a Patient-Specific Finite-Element Model to Simulate Conservative Treatment in Adolescent Idiopathic Scoliosis. Spine Deformity. 3:4-11. 2015
- Primary keratinocyte cell culture-on EpiGen membranes for autologous skin grafts in paediatric burn patients. South African Journal of Science. 101:192-196. 2005
- Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. American Journal of Medical Genetics, Part A. 45:631-637. 1993
- Characterization of arylsulfatase C isozymes from human liver and placenta. Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1078:251-257. 1991
- The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation.. American Journal of Human Genetics. 46:729-737. 1990
- Atlantoaxial Instability in Individuals With Down Syndrome: A Fresh Look at the Evidence. Pediatrics. 81:857-865. 1988
- Detection of chlamydial inclusions in cell culture or biopsy tissue by alkaline phosphatase-anti-alkaline phosphatase staining. Journal of Clinical Microbiology. 25:1864-1867. 1987
- Perspectives in the Teaching of Human Genetics. Advances in human genetics. 16:79-119. 1987
- ASSOCIATION OF STEROID SULFATASE WITH ONE OF THE ARYLSULFATASE-C ISOZYMES IN HUMAN-FIBROBLASTS. Journal of Biological Chemistry. 261:4443-4447. 1986
- Association of steroid sulfatase with one of the arylsulfatase C isozymes in human fibroblasts.. Journal of Biological Chemistry. 261:14443-14447. 1986
- Further Evaluation of the Scolitron Treatment of Idiopathic Adolescent Scoliosis. Spine. 11:903-906. 1986
- Action of surface-active agents on arylsulfatase-C of human cultured fibroblasts. Analytical Biochemistry. 144:362-370. 1985
- Diagnosis of Pseudo-Arylsulfatase A Deficiency with Electrophoretic Techniques. Pediatric Research. 18:1042-1045. 1984
- Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency. Journal of Inherited Metabolic Disease. 6:167-172. 1983
- Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.. Proceedings of the National Academy of Sciences of the United States of America. 80:7323-7327. 1983
- Cast Brace Management of the Femoral Shaft Fracture in Children and Young Adults. Journal of Pediatric Orthopaedics. 3:572-582. 1983
- A Medical-School Curriculum for the 1980s. New England Journal of Medicine. 308:1230-1232. 1983
- Gene dosage effects in human diploid and tetraploid fibroblasts. Experimental Cell Research. 145:277-284. 1983
- Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy. Human Genetics. 61:231-235. 1982
- Qualitative characteristics of the beta-glucosidase isozymes.. Progress in Clinical and Biological Research. 95:415-441. 1982
- Differential assay of arylsulfatase A and B activities: A sensitive method for cultured human cells. Analytical Biochemistry. 117:382-389. 1981
- Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.. Proceedings of the National Academy of Sciences of the United States of America. 77:6166-6170. 1980
- Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.. American Journal of Human Genetics. 32:670-680. 1980
- Gaucher's Disease II. Studies on the Kinetics of β-Glucosidase and the Effects of Sodium Taurocholate in Normal and Gaucher Tissues. Pediatric Research. 14:54-59. 1980
- Gaucherʼs Disease II. Studies on the Kinetics of β-Glucosidase and the Effects of Sodium Taurocholate in Normal and Gaucher Tissues. Pediatric Research. 14:54-59. 1980
- Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction.. Journal of Medical Genetics. 9:242-244. 1972
- Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations. Clinical Chemistry. 18:179-187. 1972
- Two b-c translocations specifically identified by 'banding' techniques as 46, XY,t(5p+6q-) and 46,XX,t(4q-7p+).. Journal of Medicine. 3:216-223. 1972
- An inherited pericentric chromosomal inversion (46, inv3 [p-q+]) associated with skeletal anomalies. Journal of Pediatrics. 79:456-462. 1971
- A simplified technique for the culture of amniotic fluid cells. Journal of Pediatrics. 79:119-121. 1971
- Genetic Polymorphisms of Human Mitochondrial Glutamic Oxaloacetic Transaminase. Science. 169:391-392. 1970
- Spontaneous Sexual Development in a Chromatin Negative Female with XO Blood Leukocyte Karyotype. Pediatrics. 42:825-828. 1968
- THE LYON HYPOTHESIS. Annals of the New York Academy of Sciences. 151:157-158. 1968
- Mitochondrial Malate Dehydrogenase: A New Genetic Polymorphism in Man. Science. 157:1569-1571. 1967
- Genetic Variant of Human Erythrocyte Malate Dehydrogenase. Nature. 215:761-762. 1967
- Electrophoretic variants of human 6‐phosphogluconate dehydrogenase: population and family studies and description of a new variant. Annals of Human Genetics. 30:355-360. 1967
- Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation. Cytogenetics. 6:321-330. 1967
- Reply. Journal of Pediatrics. 67:890-890. 1965
- Genetical studies on a variant of human lactate dehydrogenase (subunit A). Annals of Human Genetics. 29:5-18. 1965
- Reply to Dr. Tönz's letter in the May issue. Journal of Pediatrics. 67:152-152. 1965
- The Lyon hypothesis. Journal of Pediatrics. 65:765-775. 1964
- Genetic variations in the quantitative control of erythrocyte glucose‐6‐phosphate dehydrogenase activity. Annals of Human Genetics. 28:61-70. 1964
- DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS. Proceedings of the National Academy of Sciences of the United States of America. 50:481-485. 1963
- Skin Biopsy for Cell Culture. Nature. 199:296-297. 1963
- Dosage compensation in the regulation of erythrocyte glucose-6-phosphate dehydrogenase activity.. Johns Hopkins Medical Journal. 112:318-322. 1963