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European Journal of Human Genetics : EJHG
|
August 10, 1999
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
S Liechti-Gallati, V Schneider, D Neeser, et al.
Schweizerische Medizinische Wochenschrift
|
December 19, 1987
[Carrier diagnosis and prenatal prognosis using DNA analysis in X-chromosome-linked Duchenne and Becker muscular dystrophy]
H Moser, S Liechti-Gallati, S Braga, et al.
Human Genetics
|
November 1, 1987
Familial deletion in Becker type muscular dystrophy within the pXJ region
S Liechti-Gallati, S Braga, H Hirsiger, et al.
Pediatric Research
|
February 1, 1993
Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis
S Liechti-Gallati, G Wolff, U P Ketelsen, et al.
Human Mutation
|
February 5, 1998
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
S M Tanner, J Laporte, C Guiraud-Chaumeil, et al.
Human Genetics
|
December 1, 1996
Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1)
Z Smolenicka, D Guerini, E Carafoli, et al.
Human Genetics
|
February 1, 1996
Identification of four novel splice site mutations in the ornithine transcarbamylase gene
E Oppliger Leibundgut, B Wermuth, J P Colombo, et al.
Experientia
|
October 15, 1980
Distribution of cytoskeletal elements in cultured skin fibroblasts of patients with Duchenne's muscular dystrophy
E Rungger-Brändle, S Liechti-Gallati, G Gabbiani, et al.
Journal of Hepatology
|
April 1, 1996
Differential expression of Na+,H(+)-antiporter mRNA in biliary epithelial cells and in hepatocytes
U Marti, C Elsing, E L Renner, et al.
Human Genetics
|
February 1, 1995
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation
E O Oppliger Leibundgut, S Liechti-Gallati, J P Colombo, et al.
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of 6
Search research articles
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Showing results (11-20 of 56) with videos related to
Sort By:
Page
of 6
European Journal of Human Genetics : EJHG
|
August 10, 1999
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
S Liechti-Gallati, V Schneider, D Neeser, et al.
Schweizerische Medizinische Wochenschrift
|
December 19, 1987
[Carrier diagnosis and prenatal prognosis using DNA analysis in X-chromosome-linked Duchenne and Becker muscular dystrophy]
H Moser, S Liechti-Gallati, S Braga, et al.
Human Genetics
|
November 1, 1987
Familial deletion in Becker type muscular dystrophy within the pXJ region
S Liechti-Gallati, S Braga, H Hirsiger, et al.
Pediatric Research
|
February 1, 1993
Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis
S Liechti-Gallati, G Wolff, U P Ketelsen, et al.
Human Mutation
|
February 5, 1998
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
S M Tanner, J Laporte, C Guiraud-Chaumeil, et al.
Human Genetics
|
December 1, 1996
Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1)
Z Smolenicka, D Guerini, E Carafoli, et al.
Human Genetics
|
February 1, 1996
Identification of four novel splice site mutations in the ornithine transcarbamylase gene
E Oppliger Leibundgut, B Wermuth, J P Colombo, et al.
Experientia
|
October 15, 1980
Distribution of cytoskeletal elements in cultured skin fibroblasts of patients with Duchenne's muscular dystrophy
E Rungger-Brändle, S Liechti-Gallati, G Gabbiani, et al.
Journal of Hepatology
|
April 1, 1996
Differential expression of Na+,H(+)-antiporter mRNA in biliary epithelial cells and in hepatocytes
U Marti, C Elsing, E L Renner, et al.
Human Genetics
|
February 1, 1995
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation
E O Oppliger Leibundgut, S Liechti-Gallati, J P Colombo, et al.
Page
of 6