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Rebecca J Gardner

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
1998 · Berge A. Minassian, Jeffrey R. Lee, et al. · Nature Genetics · 490
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
2000 · I K Temple, R J Gardner, et al. · Diabetes · 262
An imprinted locus associated with transient neonatal diabetes mellitus
2000 · R. J. Gardner · Human Molecular Genetics · 212
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
1994 · Roland G. Roberts, Rebecca J. Gardner, et al. · Human Mutation · 165
Aetiopathology and genetic basis of neonatal diabetes: Table 1
1997 · J P H Shield, R J Gardner, et al. · Archives of Disease in Childhood Fetal & Neonatal · 133
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A three way translocation in mother and daughter.
1986 · R J Gardner, N A Monk, et al. · Journal of Medical Genetics · 83
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Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1–Xp21.3 mental retardation
2000 · Hong Jin, Rebecca J Gardner, et al. · European Journal of Human Genetics · 77
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.
1995 · R J Gardner, M Bobrow, et al. · Europe PMC (PubMed Central) · 73
Ring chromosome 1 associated with radial ray defect.
1984 · R J Gardner, R M Grindley, et al. · Journal of Medical Genetics · 73
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Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (∼5.4 Mb) interval on chromosome 6q
1999 · Rebecca J Gardner, Andrew J Mungall, et al. · Journal of Medical Genetics · 42
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.
1980 · J M Berg, H A Gardner, et al. · Journal of Medical Genetics · 28
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Prevalence of von Recklinghausen neurofibromatosis in Dunedin, New Zealand.
1989 · L C Fuller, B Cox, et al. · PubMed · 23
Maternal histidinaemia.
1974 · I C Lyon, R J Gardner, et al. · Archives of Disease in Childhood · 19
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Central Precocious Puberty in a Girl with Triple X Syndrome and Neonatal Diabetes Mellitus Associated with Paternal Isodisomy of Chromosome 6
2001 · G. Valerio, A. Franzese, et al. · Journal of Pediatric Endocrinology and Metabolism · 18
Transient Neonatal Diabetes Mellitus in a Child with Paternal Uniparental Disomy of Chromosome 6
2001 · T. Milenkovic, D. Zdravkovic, et al. · Journal of Pediatric Endocrinology and Metabolism · 10
A ring 15 chromosome in a girl with minor abnormalities.
1980 · R J Gardner, W E Chewings, et al. · PubMed · 9
Variant Chromosomes and Abnormalities of No Phenotypic Consequence
2011 · R. J. McKinlay Gardner, Grant R. Sutherland, et al. · Oxford University Press eBooks · 4
Letter: Maternal histidinaemia.
1976 · I C Lyon, R J Gardner, et al. · Archives of Disease in Childhood · 3
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Parental Sex Chromosome Aneuploidy
2011 · R. J. McKinlay Gardner, Grant R. Sutherland, et al. · Oxford University Press eBooks · 2
Parental Autosomal Aneuploidy
2011 · R. J. McKinlay Gardner, Grant R. Sutherland, et al. · Oxford University Press eBooks
Uniparental Disomy and Disorders of Imprinting
2011 · R. J. McKinlay Gardner, Grant R. Sutherland, et al. · Oxford University Press eBooks
Transient and Permanent Neonatal Diabetes (TNDM + PNDM) 222
1996 · Julian Ph Shield, I K Temple, et al. · Pediatric Research
Translocations, social class, and Adam and Eve.
1984 · R J Gardner · Journal of Medical Genetics
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Works count: 24
Citation count: 1,726
H-index: 14
I10-index: 15
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