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C M Eng

Showing results (21-30 of 35) with videos related to

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Human Molecular Genetics|October 1, 1994
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A geneC M Eng, D J Niehaus, A L Enriquez, et al.
Molecular Medicine (Cambridge, Mass.)|February 10, 2000
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry diseaseA K Topaloglu, G A Ashley, B Tong, et al.
The Journal of Clinical Investigation|April 1, 1989
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneH S Bernstein, D F Bishop, K H Astrin, et al.
Journal of Forensic Sciences|September 26, 1997
HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populationsI Medintz, L Levine, L McCurdy, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|May 16, 2001
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutationsJ M Satagopan, K Offit, W Foulkes, et al.
American Journal of Respiratory and Critical Care Medicine|March 1, 1997
Pulmonary involvement in Fabry diseaseL K Brown, A Miller, A Bhuptani, et al.
The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.
American Journal of Human Genetics|August 1, 1994
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequencyJ B Sherman, N Raben, C Nicastri, et al.
American Journal of Human Genetics|June 23, 1998
Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patientsF H Fodor, A Weston, I J Bleiweiss, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|August 6, 2021
Clinical experience with non-invasive prenatal screening for single-gene disordersP Mohan, J Lemoine, C Trotter, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|October 1, 1994
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A geneC M Eng, D J Niehaus, A L Enriquez, et al.
Molecular Medicine (Cambridge, Mass.)|February 10, 2000
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry diseaseA K Topaloglu, G A Ashley, B Tong, et al.
The Journal of Clinical Investigation|April 1, 1989
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneH S Bernstein, D F Bishop, K H Astrin, et al.
Journal of Forensic Sciences|September 26, 1997
HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populationsI Medintz, L Levine, L McCurdy, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|May 16, 2001
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutationsJ M Satagopan, K Offit, W Foulkes, et al.
American Journal of Respiratory and Critical Care Medicine|March 1, 1997
Pulmonary involvement in Fabry diseaseL K Brown, A Miller, A Bhuptani, et al.
The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.
American Journal of Human Genetics|August 1, 1994
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequencyJ B Sherman, N Raben, C Nicastri, et al.
American Journal of Human Genetics|June 23, 1998
Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patientsF H Fodor, A Weston, I J Bleiweiss, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|August 6, 2021
Clinical experience with non-invasive prenatal screening for single-gene disordersP Mohan, J Lemoine, C Trotter, et al.
Pageof 4