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Showing results (111-120 of 161) with videos related to

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Neurology|July 13, 2000
Central and peripheral nervous system dysfunction in the clinical variation of Salla diseaseT Varho, S Jääskeläinen, U Tolonen, et al.
FEBS Letters|July 28, 1997
Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseasesA Majander, T Lamminen, V Juvonen, et al.
The Journal of Clinical Investigation|February 1, 1986
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblastsM Renlund, P T Kovanen, K O Raivio, et al.
Clinical Genetics|January 10, 2001
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuriaO Järvinen, M Hietala, A M Aalto, et al.
American Journal of Human Genetics|June 1, 1996
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNAP Lahermo, A Sajantila, P Sistonen, et al.
American Journal of Human Genetics|October 1, 1995
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15J Schleutker, P Leppänen, J E Månsson, et al.
American Journal of Human Genetics|May 1, 1995
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathyT Lamminen, A Majander, V Juvonen, et al.
Annales De Genetique|December 1, 1976
Mapping of the gene for glutathione reductase on chromosome 8A de la Chapelle, A Icen, P Aula, et al.
Genomics|May 20, 1995
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15J Schleutker, A P Laine, L Haataja, et al.
Patient Education and Counseling|November 14, 1997
Acceptance of genetic testing in a general population: age, education and gender differencesA R Aro, A Hakonen, M Hietala, et al.
Pageof 17

Showing results (111-120 of 161) with videos related to

Sort By:
Pageof 17
Neurology|July 13, 2000
Central and peripheral nervous system dysfunction in the clinical variation of Salla diseaseT Varho, S Jääskeläinen, U Tolonen, et al.
FEBS Letters|July 28, 1997
Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseasesA Majander, T Lamminen, V Juvonen, et al.
The Journal of Clinical Investigation|February 1, 1986
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblastsM Renlund, P T Kovanen, K O Raivio, et al.
Clinical Genetics|January 10, 2001
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuriaO Järvinen, M Hietala, A M Aalto, et al.
American Journal of Human Genetics|June 1, 1996
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNAP Lahermo, A Sajantila, P Sistonen, et al.
American Journal of Human Genetics|October 1, 1995
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15J Schleutker, P Leppänen, J E Månsson, et al.
American Journal of Human Genetics|May 1, 1995
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathyT Lamminen, A Majander, V Juvonen, et al.
Annales De Genetique|December 1, 1976
Mapping of the gene for glutathione reductase on chromosome 8A de la Chapelle, A Icen, P Aula, et al.
Genomics|May 20, 1995
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15J Schleutker, A P Laine, L Haataja, et al.
Patient Education and Counseling|November 14, 1997
Acceptance of genetic testing in a general population: age, education and gender differencesA R Aro, A Hakonen, M Hietala, et al.
Pageof 17