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Human Molecular Genetics
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August 15, 2000
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
U Kornak, A Schulz, W Friedrich, et al.
Neuropediatrics
|
May 1, 1988
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis
T Voit, O Krogmann, H G Lenard, et al.
Neuropediatrics
|
October 12, 2005
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively
J Klepper, H Scheffer, B Leiendecker, et al.
Neuromuscular Disorders : NMD
|
March 1, 1995
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene
R E Bittner, S Shorny, R Ferlings, et al.
Neuromuscular Disorders : NMD
|
January 1, 1992
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene
W Kress, E Müller, K Kausch, et al.
Annals of the New York Academy of Sciences
|
March 27, 1995
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene
W M Franz, M Cremer, R Herrmann, et al.
Neuropediatrics
|
February 1, 1996
Neurosensory hearing loss in secondary adhalinopathy
K Oexle, R Herrmann, C Dodé, et al.
Lancet (London, England)
|
June 1, 2000
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
W M Franz, M Müller, O J Müller, et al.
Neuropediatrics
|
June 1, 1995
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy
T Voit, C A Sewry, K Meyer, et al.
American Journal of Medical Genetics
|
October 27, 1998
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome
G Göhlich-Ratmann, M Baethmann, P Lorenz, et al.
Page
of 15
Search research articles
Search
Showing results (91-100 of 143) with videos related to
Sort By:
Page
of 15
Human Molecular Genetics
|
August 15, 2000
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
U Kornak, A Schulz, W Friedrich, et al.
Neuropediatrics
|
May 1, 1988
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis
T Voit, O Krogmann, H G Lenard, et al.
Neuropediatrics
|
October 12, 2005
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively
J Klepper, H Scheffer, B Leiendecker, et al.
Neuromuscular Disorders : NMD
|
March 1, 1995
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene
R E Bittner, S Shorny, R Ferlings, et al.
Neuromuscular Disorders : NMD
|
January 1, 1992
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene
W Kress, E Müller, K Kausch, et al.
Annals of the New York Academy of Sciences
|
March 27, 1995
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene
W M Franz, M Cremer, R Herrmann, et al.
Neuropediatrics
|
February 1, 1996
Neurosensory hearing loss in secondary adhalinopathy
K Oexle, R Herrmann, C Dodé, et al.
Lancet (London, England)
|
June 1, 2000
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
W M Franz, M Müller, O J Müller, et al.
Neuropediatrics
|
June 1, 1995
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy
T Voit, C A Sewry, K Meyer, et al.
American Journal of Medical Genetics
|
October 27, 1998
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome
G Göhlich-Ratmann, M Baethmann, P Lorenz, et al.
Page
of 15