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Human Mutation
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January 1, 1996
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms
E O Oppliger Leibundgut, B Wermuth, J P Colombo, et al.
Enzyme
|
January 1, 1991
Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency
S Liechti-Gallati, C Dionisi, C Bachmann, et al.
European Journal of Pediatrics
|
January 1, 1995
The age at onset of chronic Pseudomonas aeruginosa colonization in cystic fibrosis--prognostic significance
C Aebi, R Bracher, S Liechti-Gallati, et al.
Human Genetics
|
March 1, 1993
Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree
A Sander, H Moser, S Liechti-Gallati, et al.
Schweizerische Medizinische Wochenschrift
|
October 9, 1993
[Quadriceps myopathy as dystrophin-associated myopathy]
H C von Mitzlaff, S Liechti-Gallati, K M Rösler, et al.
Pediatric Research
|
November 1, 1981
Abnormal growth kinetics and 5'-nucleotidase activities in cultured skin fibroblasts from patients with Duchenne muscular dystrophy
S Liechti-Gallati, H Moser, H P Siegrist, et al.
Biochemical and Biophysical Research Communications
|
June 24, 1998
A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease
S Kleinle, V Schneider, P Moosmann, et al.
Journal of Medical Genetics
|
March 1, 1994
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
T Grimm, G Meng, S Liechti-Gallati, et al.
Neurology
|
September 12, 2001
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations
I J Sutton, J B Winer, A N Norman, et al.
Genomics
|
January 1, 1988
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
A P Monaco, C J Bertelson, S Liechti-Gallati, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 56) with videos related to
Sort By:
Page
of 6
Human Mutation
|
January 1, 1996
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms
E O Oppliger Leibundgut, B Wermuth, J P Colombo, et al.
Enzyme
|
January 1, 1991
Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency
S Liechti-Gallati, C Dionisi, C Bachmann, et al.
European Journal of Pediatrics
|
January 1, 1995
The age at onset of chronic Pseudomonas aeruginosa colonization in cystic fibrosis--prognostic significance
C Aebi, R Bracher, S Liechti-Gallati, et al.
Human Genetics
|
March 1, 1993
Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree
A Sander, H Moser, S Liechti-Gallati, et al.
Schweizerische Medizinische Wochenschrift
|
October 9, 1993
[Quadriceps myopathy as dystrophin-associated myopathy]
H C von Mitzlaff, S Liechti-Gallati, K M Rösler, et al.
Pediatric Research
|
November 1, 1981
Abnormal growth kinetics and 5'-nucleotidase activities in cultured skin fibroblasts from patients with Duchenne muscular dystrophy
S Liechti-Gallati, H Moser, H P Siegrist, et al.
Biochemical and Biophysical Research Communications
|
June 24, 1998
A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease
S Kleinle, V Schneider, P Moosmann, et al.
Journal of Medical Genetics
|
March 1, 1994
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
T Grimm, G Meng, S Liechti-Gallati, et al.
Neurology
|
September 12, 2001
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations
I J Sutton, J B Winer, A N Norman, et al.
Genomics
|
January 1, 1988
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
A P Monaco, C J Bertelson, S Liechti-Gallati, et al.
Page
of 6