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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.
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 Pediatrics
|
December 1, 1983
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency
L R Garibaldi, S Canini, A Superti-Furga, et al.
Human Genetics
|
October 28, 1997
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
S Kleinle, U Wiesmann, A Superti-Furga, et al.
Klinische Padiatrie
|
May 14, 2009
Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II
K N Walter, M Erlacher, M Uhl, et al.
Clinical Genetics
|
July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4
E Steichen-Gersdorf, I Gassner, A Superti-Furga, 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 Human Genetics
|
February 1, 1996
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
J Hästbacka, A Superti-Furga, W R Wilcox, et al.
Annals of the New York Academy of Sciences
|
June 8, 1996
Sulfate transport in chondrodysplasia
J Hästbacka, A Superti-Furga, W R Wilcox, 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.
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of 14
Search research articles
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Showing results (71-80 of 136) with videos related to
Sort By:
Page
of 14
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.
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 Pediatrics
|
December 1, 1983
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency
L R Garibaldi, S Canini, A Superti-Furga, et al.
Human Genetics
|
October 28, 1997
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
S Kleinle, U Wiesmann, A Superti-Furga, et al.
Klinische Padiatrie
|
May 14, 2009
Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II
K N Walter, M Erlacher, M Uhl, et al.
Clinical Genetics
|
July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4
E Steichen-Gersdorf, I Gassner, A Superti-Furga, 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 Human Genetics
|
February 1, 1996
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
J Hästbacka, A Superti-Furga, W R Wilcox, et al.
Annals of the New York Academy of Sciences
|
June 8, 1996
Sulfate transport in chondrodysplasia
J Hästbacka, A Superti-Furga, W R Wilcox, 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.
Page
of 14