Changes in synthesis of types-I and -III collagen during matrix-induced endochondral bone differentiation in rat.

অনুযায়ী Steinmann, B U, Reddi, A H
প্রকাশিত 1980

Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII.

অনুযায়ী Halila, R, Steinmann, B, Peltonen, L
প্রকাশিত 1986

Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.

অনুযায়ী Steinmann, B, Eyre, D R, Shao, P
প্রকাশিত 1995

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

অনুযায়ী Mitchell, B, Haigis, E, Steinmann, B, Gitzelmann, R
প্রকাশিত 1975

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

অনুযায়ী Maslen, C, Babcock, D, Raghunath, M, Steinmann, B
প্রকাশিত 1997

Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

অনুযায়ী Superti-Furga, A, Pistone, F, Romano, C, Steinmann, B
প্রকাশিত 1989

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

অনুযায়ী Cohn, D H, Byers, P H, Steinmann, B, Gelinas, R E
প্রকাশিত 1986

A HaeIII RFLP in COL1A1.

অনুযায়ী Mackay, K, Hawkins, J R, Superti-Furga, A, Steinmann, B, Dalgleish, R
প্রকাশিত 1990

In vitro and in vivo estrogenicity of UV screens.

অনুযায়ী Schlumpf, M, Cotton, B, Conscience, M, Haller, V, Steinmann, B, Lichtensteiger, W
প্রকাশিত 2001

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

অনুযায়ী Okano, Y, Wang, T, Eisensmith, R C, Steinmann, B, Gitzelmann, R, Woo, S L
প্রকাশিত 1990

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.

অনুযায়ী Raghunath, M, Kielty, C M, Kainulainen, K, Child, A, Peltonen, L, Steinmann, B
প্রকাশিত 1994

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at...

অনুযায়ী Steinmann, B, Westerhausen, A, Constantinou, C D, Superti-Furga, A, Prockop, D J
প্রকাশিত 1991

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 E...

অনুযায়ী Heikkinen, J, Toppinen, T, Yeowell, H, Krieg, T, Steinmann, B, Kivirikko, K I, Myllylä, R
প্রকাশিত 1997

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrom...

অনুযায়ী Lee, B, D'Alessio, M, Vissing, H, Ramirez, F, Steinmann, B, Superti-Furga, A
প্রকাশিত 1991

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

অনুযায়ী Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J.
প্রকাশিত 1999

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between sm...

অনুযায়ী Winterpacht, A, Superti-Furga, A, Schwarze, U, Stöss, H, Steinmann, B, Spranger, J, Zabel, B
প্রকাশিত 1996

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

অনুযায়ী FABER, J, WINTERPACHT, A, ZABEL, B, GNOINSKI, W, SCHINZEL, A, STEINMANN, B, SUPERTI-FURGA, A
প্রকাশিত 2000

Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase.

অনুযায়ী Raghunath, M, Höpfner, B, Aeschlimann, D, Lüthi, U, Meuli, M, Altermatt, S, Gobet, R, Bruckner-Tuderman, L, Steinmann, B
প্রকাশিত 1996

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 hom...

অনুযায়ী Bai, M, Pearce, S H, Kifor, O, Trivedi, S, Stauffer, U G, Thakker, R V, Brown, E M, Steinmann, B
প্রকাশিত 1997

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

অনুযায়ী Sullivan, S E, Moore, S D, Connor, J M, King, M, Cockburn, F, Steinmann, B, Gitzelmann, R, Daiger, S P, Woo, S L
প্রকাশিত 1989