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C R Greenberg

Showing results (61-70 of 105) with videos related to

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American Journal of Medical Genetics|July 27, 2001
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literatureA M Innes, A E Chudley, M H Reed, et al.
American Journal of Human Genetics|February 1, 1990
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markersC R Greenberg, J A Evans, S McKendry-Smith, et al.
Journal of Neuropathology and Experimental Neurology|November 5, 1997
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndromeM R Del Bigio, C R Greenberg, L B Rorke, et al.
American Journal of Diseases of Children (1960)|July 1, 1989
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancyM J Stephan, E L Stevens, R J Wenstrup, et al.
Journal of Medical Genetics|August 1, 1993
Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophyE Hildes, H K Jacobs, A Cameron, et al.
Genomics|July 1, 1993
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonitesC R Greenberg, C L Taylor, J C Haworth, et al.
Journal of Pediatric Gastroenterology and Nutrition|April 1, 2008
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failureA A Mhanni, A Chan, M Collison, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretionE Christensen, A Ribes, C Busquets, et al.
Clinical Genetics|November 24, 1999
Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiencyE L Spriggs, S L Marles, A Lacson, et al.
American Journal of Human Genetics|June 23, 1998
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locusT Weiler, C R Greenberg, T Zelinski, et al.
Pageof 11

Showing results (61-70 of 105) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics|July 27, 2001
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literatureA M Innes, A E Chudley, M H Reed, et al.
American Journal of Human Genetics|February 1, 1990
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markersC R Greenberg, J A Evans, S McKendry-Smith, et al.
Journal of Neuropathology and Experimental Neurology|November 5, 1997
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndromeM R Del Bigio, C R Greenberg, L B Rorke, et al.
American Journal of Diseases of Children (1960)|July 1, 1989
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancyM J Stephan, E L Stevens, R J Wenstrup, et al.
Journal of Medical Genetics|August 1, 1993
Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophyE Hildes, H K Jacobs, A Cameron, et al.
Genomics|July 1, 1993
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonitesC R Greenberg, C L Taylor, J C Haworth, et al.
Journal of Pediatric Gastroenterology and Nutrition|April 1, 2008
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failureA A Mhanni, A Chan, M Collison, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretionE Christensen, A Ribes, C Busquets, et al.
Clinical Genetics|November 24, 1999
Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiencyE L Spriggs, S L Marles, A Lacson, et al.
American Journal of Human Genetics|June 23, 1998
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locusT Weiler, C R Greenberg, T Zelinski, et al.
Pageof 11