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The Journal of Biological Chemistry
|
March 15, 1991
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV
H Vissing, M D'Alessio, B Lee, et al.
European Journal of Pediatrics
|
March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
A Superti-Furga, G Eich, H U Bucher, et al.
American Journal of Medical Genetics
|
April 12, 2001
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature
U Stucki, M A Spycher, G Eich, et al.
The Journal of Biological Chemistry
|
June 25, 1988
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant
D Weil, M Bernard, N Combates, et al.
The Journal of Biological Chemistry
|
October 5, 1989
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII
D Weil, M D'Alessio, F Ramirez, et al.
European Journal of Pediatrics
|
January 1, 1993
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA
A Superti-Furga, E Schoenle, P Tuchschmid, et al.
Biochimica Et Biophysica Acta
|
June 30, 1985
Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells
M Fràter-Schröder, H J Porck, J Erten, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
November 20, 1998
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production
A Rossi, I Kaitila, W R Wilcox, et al.
Scientific Reports
|
March 12, 2024
Global multi-hazard risk assessment in a changing climate
Zélie Stalhandske, Carmen B Steinmann, Simona Meiler, et al.
The Journal of Clinical Investigation
|
September 1, 1996
Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase
M Raghunath, B Höpfner, D Aeschlimann, et al.
Page
of 24
Search research articles
Search
Showing results (201-210 of 238) with videos related to
Sort By:
Page
of 24
The Journal of Biological Chemistry
|
March 15, 1991
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV
H Vissing, M D'Alessio, B Lee, et al.
European Journal of Pediatrics
|
March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
A Superti-Furga, G Eich, H U Bucher, et al.
American Journal of Medical Genetics
|
April 12, 2001
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature
U Stucki, M A Spycher, G Eich, et al.
The Journal of Biological Chemistry
|
June 25, 1988
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant
D Weil, M Bernard, N Combates, et al.
The Journal of Biological Chemistry
|
October 5, 1989
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII
D Weil, M D'Alessio, F Ramirez, et al.
European Journal of Pediatrics
|
January 1, 1993
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA
A Superti-Furga, E Schoenle, P Tuchschmid, et al.
Biochimica Et Biophysica Acta
|
June 30, 1985
Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells
M Fràter-Schröder, H J Porck, J Erten, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
November 20, 1998
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production
A Rossi, I Kaitila, W R Wilcox, et al.
Scientific Reports
|
March 12, 2024
Global multi-hazard risk assessment in a changing climate
Zélie Stalhandske, Carmen B Steinmann, Simona Meiler, et al.
The Journal of Clinical Investigation
|
September 1, 1996
Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase
M Raghunath, B Höpfner, D Aeschlimann, et al.
Page
of 24