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M Goossens

Showing results (231-240 of 364) with videos related to

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Clinical Chemistry|July 1, 1999
Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutationsG Castaldo, A Fuccio, C Cazeneuve, et al.
Journal of Medical Genetics|May 19, 2001
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?V Pingault, N Bondurand, N Lemort, et al.
Hemoglobin|September 26, 2001
Molecular analysis of beta-thalassemia in South VietnamT H Le, S Pissard, H V Pham, et al.
Nouvelle Revue Francaise D'Hematologie|January 1, 1986
[DNA polymorphism in beta-thalassemia: a study of 15 families in Tunisia]J Chibani, M Vidaud, P Duquesnoy, et al.
The Journal of Clinical Investigation|February 1, 1986
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyriaH de Verneuil, B Grandchamp, P H Romeo, et al.
Human Mutation|February 6, 1998
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.
Human Genetics|January 12, 2001
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesiaG Pennarun, C Chapelin, E Escudier, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|July 1, 1975
Estimation of radiation dosage and transmutation effect of 14-C involved in measuring rate of albumin synthesis with 14-C-carbonateS H Yap, J C Hafkenscheid, C M Goossens, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 6, 1998
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung diseaseB Herbarth, V Pingault, N Bondurand, et al.
European Journal of Clinical Investigation|October 1, 1989
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseB Grandchamp, C Picat, R Kauppinen, et al.
Pageof 37

Showing results (231-240 of 364) with videos related to

Sort By:
Pageof 37
Clinical Chemistry|July 1, 1999
Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutationsG Castaldo, A Fuccio, C Cazeneuve, et al.
Journal of Medical Genetics|May 19, 2001
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?V Pingault, N Bondurand, N Lemort, et al.
Hemoglobin|September 26, 2001
Molecular analysis of beta-thalassemia in South VietnamT H Le, S Pissard, H V Pham, et al.
Nouvelle Revue Francaise D'Hematologie|January 1, 1986
[DNA polymorphism in beta-thalassemia: a study of 15 families in Tunisia]J Chibani, M Vidaud, P Duquesnoy, et al.
The Journal of Clinical Investigation|February 1, 1986
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyriaH de Verneuil, B Grandchamp, P H Romeo, et al.
Human Mutation|February 6, 1998
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.
Human Genetics|January 12, 2001
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesiaG Pennarun, C Chapelin, E Escudier, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|July 1, 1975
Estimation of radiation dosage and transmutation effect of 14-C involved in measuring rate of albumin synthesis with 14-C-carbonateS H Yap, J C Hafkenscheid, C M Goossens, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 6, 1998
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung diseaseB Herbarth, V Pingault, N Bondurand, et al.
European Journal of Clinical Investigation|October 1, 1989
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseB Grandchamp, C Picat, R Kauppinen, et al.
Pageof 37