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B Steinmann

Showing results (151-160 of 238) with videos related to

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American Journal of Medical Genetics|April 29, 1998
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)P Beighton, A De Paepe, B Steinmann, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of MetabolismR Santer, R Schneppenheim, A Dombrowski, et al.
Clinical Rheumatology|March 24, 1999
Type I osteogenesis imperfecta: diagnostic difficultiesH Bischoff, P Freitag, G Jundt, et al.
Connective Tissue Research|January 1, 1993
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.
Archiv Fur Genetik|January 1, 1974
Structural aberrations of chromosome 18. I. The 18p-syndromeA Schinzel, W Schmid, U Lüscher, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 20, 1974
Folic acid non-dependent formiminoglutamic aciduria in two siblingsA Niederwieser, P Giliberti, A Matasović, et al.
Nucleic Acids Research|October 11, 1990
A HaeIII RFLP in COL1A1K Mackay, J R Hawkins, A Superti-Furga, et al.
The Journal of Bone and Joint Surgery. American Volume|March 12, 1999
Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.
Pediatric Research|October 1, 1994
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|October 18, 2002
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactylyN Kölble, J Wisser, D Babcock, et al.
Pageof 24

Showing results (151-160 of 238) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics|April 29, 1998
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)P Beighton, A De Paepe, B Steinmann, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of MetabolismR Santer, R Schneppenheim, A Dombrowski, et al.
Clinical Rheumatology|March 24, 1999
Type I osteogenesis imperfecta: diagnostic difficultiesH Bischoff, P Freitag, G Jundt, et al.
Connective Tissue Research|January 1, 1993
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.
Archiv Fur Genetik|January 1, 1974
Structural aberrations of chromosome 18. I. The 18p-syndromeA Schinzel, W Schmid, U Lüscher, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 20, 1974
Folic acid non-dependent formiminoglutamic aciduria in two siblingsA Niederwieser, P Giliberti, A Matasović, et al.
Nucleic Acids Research|October 11, 1990
A HaeIII RFLP in COL1A1K Mackay, J R Hawkins, A Superti-Furga, et al.
The Journal of Bone and Joint Surgery. American Volume|March 12, 1999
Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.
Pediatric Research|October 1, 1994
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|October 18, 2002
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactylyN Kölble, J Wisser, D Babcock, et al.
Pageof 24