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Showing results (51-60 of 67) with videos related to

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Hemoglobin|March 1, 1997
Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modificationA C Kattamis, K M Kelly, K Ohene-Frempong, et al.
American Journal of Medical Genetics|May 8, 2000
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprintingJ E Ming, N Blagowidow, J H Knoll, et al.
Molecular and Cellular Probes|August 1, 1993
Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier statusE S Mansfield, A Blasband, M N Kronick, et al.
American Journal of Medical Genetics|November 6, 1995
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysisM Kobayashi, B S Kaplan, R D Bellah, et al.
Genetic Testing|August 23, 2000
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technologyG Restagno, A M Gomez, L Sbaiz, et al.
Lancet (London, England)|March 3, 1998
Connexin-26 mutations in sporadic and inherited sensorineural deafnessX Estivill, P Fortina, S Surrey, et al.
American Journal of Hematology|June 1, 1997
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemiaC Camaschella, A C Kattamis, D Petroni, et al.
American Journal of Medical Genetics|December 15, 1993
Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategiesE S Mansfield, J M Robertson, R V Lebo, et al.
Blood|September 26, 2000
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicingM Margaglione, R Santacroce, D Colaizzo, et al.
Transfusion|July 1, 1997
The presurgical management with erythrocytapheresis of a patient with a high-oxygen-affinity, unstable Hb variant (Hb Bryn Mawr)P J Larson, D F Friedman, M P Reilly, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
Hemoglobin|March 1, 1997
Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modificationA C Kattamis, K M Kelly, K Ohene-Frempong, et al.
American Journal of Medical Genetics|May 8, 2000
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprintingJ E Ming, N Blagowidow, J H Knoll, et al.
Molecular and Cellular Probes|August 1, 1993
Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier statusE S Mansfield, A Blasband, M N Kronick, et al.
American Journal of Medical Genetics|November 6, 1995
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysisM Kobayashi, B S Kaplan, R D Bellah, et al.
Genetic Testing|August 23, 2000
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technologyG Restagno, A M Gomez, L Sbaiz, et al.
Lancet (London, England)|March 3, 1998
Connexin-26 mutations in sporadic and inherited sensorineural deafnessX Estivill, P Fortina, S Surrey, et al.
American Journal of Hematology|June 1, 1997
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemiaC Camaschella, A C Kattamis, D Petroni, et al.
American Journal of Medical Genetics|December 15, 1993
Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategiesE S Mansfield, J M Robertson, R V Lebo, et al.
Blood|September 26, 2000
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicingM Margaglione, R Santacroce, D Colaizzo, et al.
Transfusion|July 1, 1997
The presurgical management with erythrocytapheresis of a patient with a high-oxygen-affinity, unstable Hb variant (Hb Bryn Mawr)P J Larson, D F Friedman, M P Reilly, et al.
Pageof 7