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Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1986
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele
D H Cohn, P H Byers, B Steinmann, et al.
The Journal of Biological Chemistry
|
July 25, 1993
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide
D F Holmes, R B Watson, B Steinmann, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1996
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
A M Lund, M Schwartz, M Raghunath, et al.
Clinical Genetics
|
June 7, 2003
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
L Bonafé, C Giunta, M Gassner, et al.
Journal of Chromatography
|
November 6, 1974
Mass fragmentography of dopamine and 6-hydroxydopamine. Application to the determination of dopamine in human brain biopsies from the caudate nucleus
H C Curtius, M Wolfensberger, B Steinmann, et al.
European Journal of Pediatrics
|
May 1, 1985
Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis?
R Gitzelmann, M A Spycher, S Adank, et al.
The Journal of Biological Chemistry
|
January 25, 1989
Decreased thermal denaturation temperature of osteogenesis imperfecta mutant collagen is independent of post-translational overmodifications of lysine and hydroxylysine
V H Rao, B Steinmann, W de Wet, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
December 1, 1986
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]
S Lalive d'Epinay, S Rampini, U Arbenz, et al.
Nature Genetics
|
November 14, 1997
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
R Santer, R Schneppenheim, A Dombrowski, et al.
American Journal of Medical Genetics
|
May 3, 1996
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?
G F Eich, B Steinmann, J Hodler, et al.
Page
of 24
Search research articles
Search
Showing results (141-150 of 238) with videos related to
Sort By:
Page
of 24
Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1986
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele
D H Cohn, P H Byers, B Steinmann, et al.
The Journal of Biological Chemistry
|
July 25, 1993
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide
D F Holmes, R B Watson, B Steinmann, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1996
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
A M Lund, M Schwartz, M Raghunath, et al.
Clinical Genetics
|
June 7, 2003
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
L Bonafé, C Giunta, M Gassner, et al.
Journal of Chromatography
|
November 6, 1974
Mass fragmentography of dopamine and 6-hydroxydopamine. Application to the determination of dopamine in human brain biopsies from the caudate nucleus
H C Curtius, M Wolfensberger, B Steinmann, et al.
European Journal of Pediatrics
|
May 1, 1985
Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis?
R Gitzelmann, M A Spycher, S Adank, et al.
The Journal of Biological Chemistry
|
January 25, 1989
Decreased thermal denaturation temperature of osteogenesis imperfecta mutant collagen is independent of post-translational overmodifications of lysine and hydroxylysine
V H Rao, B Steinmann, W de Wet, et al.
Klinische Monatsblatter Fur Augenheilkunde
|
December 1, 1986
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]
S Lalive d'Epinay, S Rampini, U Arbenz, et al.
Nature Genetics
|
November 14, 1997
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
R Santer, R Schneppenheim, A Dombrowski, et al.
American Journal of Medical Genetics
|
May 3, 1996
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?
G F Eich, B Steinmann, J Hodler, et al.
Page
of 24