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B Steinmann

Showing results (181-190 of 238) with videos related to

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Helvetica Paediatrica Acta|October 1, 1975
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skinB Steinmann, R Gitzelmann, A Vogel, et al.
The Journal of Biological Chemistry|September 10, 1984
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfectaB Steinmann, V H Rao, A Vogel, et al.
Helvetica Paediatrica Acta|January 1, 1981
A case of fatal hereditary fructose intolerance. Misleading information of formula compositionA von Ruecker, W Endres, Y S Shin, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1998
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and managementP Heim, M Raghunath, L Meiss, et al.
Journal of Medical Genetics|August 28, 1999
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutationA Superti-Furga, L Neumann, T Riebel, et al.
The Journal of Investigative Dermatology|May 1, 1996
Fibrillin and elastin expression in skin regenerating from cultured keratinocyte autografts: morphogenesis of microfibrils begins at the dermo-epidermal junction and precedes elastic fiber formationM Raghunath, T Bächi, M Meuli, et al.
Deutsche Medizinische Wochenschrift (1946)|June 24, 1983
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]D E Müller-Wiefel, B Steinmann, M Holm-Hadulla, et al.
American Journal of Medical Genetics|July 23, 1998
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"A Superti-Furga, R Tenconi, M Clementi, et al.
American Journal of Human Genetics|January 1, 1997
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndromeJ Heikkinen, T Toppinen, H Yeowell, et al.
Human Genetics|November 1, 1994
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagenN J Rose, K Mackay, A De Paepe, et al.
Pageof 24

Showing results (181-190 of 238) with videos related to

Sort By:
Pageof 24
Helvetica Paediatrica Acta|October 1, 1975
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skinB Steinmann, R Gitzelmann, A Vogel, et al.
The Journal of Biological Chemistry|September 10, 1984
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfectaB Steinmann, V H Rao, A Vogel, et al.
Helvetica Paediatrica Acta|January 1, 1981
A case of fatal hereditary fructose intolerance. Misleading information of formula compositionA von Ruecker, W Endres, Y S Shin, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1998
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and managementP Heim, M Raghunath, L Meiss, et al.
Journal of Medical Genetics|August 28, 1999
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutationA Superti-Furga, L Neumann, T Riebel, et al.
The Journal of Investigative Dermatology|May 1, 1996
Fibrillin and elastin expression in skin regenerating from cultured keratinocyte autografts: morphogenesis of microfibrils begins at the dermo-epidermal junction and precedes elastic fiber formationM Raghunath, T Bächi, M Meuli, et al.
Deutsche Medizinische Wochenschrift (1946)|June 24, 1983
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]D E Müller-Wiefel, B Steinmann, M Holm-Hadulla, et al.
American Journal of Medical Genetics|July 23, 1998
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"A Superti-Furga, R Tenconi, M Clementi, et al.
American Journal of Human Genetics|January 1, 1997
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndromeJ Heikkinen, T Toppinen, H Yeowell, et al.
Human Genetics|November 1, 1994
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagenN J Rose, K Mackay, A De Paepe, et al.
Pageof 24