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C M Eng

Showing results (11-20 of 35) with videos related to

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American Journal of Human Genetics|June 1, 1993
Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implicationsA Sibille, C M Eng, S J Kim, et al.
Journal of Human Genetics|April 27, 2001
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotypeG A Ashley, J Shabbeer, M Yasuda, et al.
Journal of the Mechanical Behavior of Biomedical Materials|December 24, 2013
A constitutive description of the anisotropic response of the fascia lataF Q Pancheri, C M Eng, D E Lieberman, et al.
American Journal of Human Genetics|December 1, 1993
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseC M Eng, L A Resnick-Silverman, D J Niehaus, et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research|August 1, 2000
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotesP Ashton-Prolla, B Tong, J Shabbeer, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 1997
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypesC M Eng, G A Ashley, T S Burgert, et al.
American Journal of Medical Genetics|November 20, 1995
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33C M Eng, S A Slaugenhaupt, A Blumenfeld, et al.
American Journal of Medical Genetics|June 9, 1999
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)P Ashton-Prolla, G A Ashley, R Giugliani, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countriesJ P Davies, C M Eng, J A Hill, et al.
JAMA|October 23, 1997
Prenatal genetic carrier testing using triple disease screeningC M Eng, C Schechter, J Robinowitz, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
American Journal of Human Genetics|June 1, 1993
Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implicationsA Sibille, C M Eng, S J Kim, et al.
Journal of Human Genetics|April 27, 2001
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotypeG A Ashley, J Shabbeer, M Yasuda, et al.
Journal of the Mechanical Behavior of Biomedical Materials|December 24, 2013
A constitutive description of the anisotropic response of the fascia lataF Q Pancheri, C M Eng, D E Lieberman, et al.
American Journal of Human Genetics|December 1, 1993
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseC M Eng, L A Resnick-Silverman, D J Niehaus, et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research|August 1, 2000
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotesP Ashton-Prolla, B Tong, J Shabbeer, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 1997
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypesC M Eng, G A Ashley, T S Burgert, et al.
American Journal of Medical Genetics|November 20, 1995
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33C M Eng, S A Slaugenhaupt, A Blumenfeld, et al.
American Journal of Medical Genetics|June 9, 1999
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)P Ashton-Prolla, G A Ashley, R Giugliani, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countriesJ P Davies, C M Eng, J A Hill, et al.
JAMA|October 23, 1997
Prenatal genetic carrier testing using triple disease screeningC M Eng, C Schechter, J Robinowitz, et al.
Pageof 4