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The New England Journal of Medicine
|
February 22, 1990
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene
A Superti-Furga, B Steinmann, B Lee, et al.
The Journal of Biological Chemistry
|
April 15, 1990
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII
M K Wirtz, D R Keene, H Hori, et al.
Der Internist
|
February 18, 1998
[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]
E Laubach, M M Ritter, C Giunta, et al.
Biochimica Et Biophysica Acta
|
February 26, 1999
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects
J T Lam, M G Martín, E Turk, et al.
Clinical Genetics
|
March 1, 1984
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder
H M Sulh, B Steinmann, V H Rao, et al.
American Journal of Human Genetics
|
April 25, 2000
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
R J Wenstrup, J B Florer, M C Willing, et al.
The Journal of Clinical Investigation
|
January 1, 1997
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
M Bai, S H Pearce, O Kifor, et al.
Human Genetics
|
December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
A Rossi, H J van der Harten, F A Beemer, et al.
Journal of the Neurological Sciences
|
August 1, 1990
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report
R J Wanders, E Boltshauser, B Steinmann, et al.
European Journal of Pediatrics
|
March 1, 1997
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
A Giedion, E Boltshauser, J Briner, et al.
Page
of 24
Search research articles
Search
Showing results (211-220 of 238) with videos related to
Sort By:
Page
of 24
The New England Journal of Medicine
|
February 22, 1990
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene
A Superti-Furga, B Steinmann, B Lee, et al.
The Journal of Biological Chemistry
|
April 15, 1990
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII
M K Wirtz, D R Keene, H Hori, et al.
Der Internist
|
February 18, 1998
[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]
E Laubach, M M Ritter, C Giunta, et al.
Biochimica Et Biophysica Acta
|
February 26, 1999
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects
J T Lam, M G Martín, E Turk, et al.
Clinical Genetics
|
March 1, 1984
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder
H M Sulh, B Steinmann, V H Rao, et al.
American Journal of Human Genetics
|
April 25, 2000
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
R J Wenstrup, J B Florer, M C Willing, et al.
The Journal of Clinical Investigation
|
January 1, 1997
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
M Bai, S H Pearce, O Kifor, et al.
Human Genetics
|
December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
A Rossi, H J van der Harten, F A Beemer, et al.
Journal of the Neurological Sciences
|
August 1, 1990
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report
R J Wanders, E Boltshauser, B Steinmann, et al.
European Journal of Pediatrics
|
March 1, 1997
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
A Giedion, E Boltshauser, J Briner, et al.
Page
of 24