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A Superti-Furga

Showing results (61-70 of 136) with videos related to

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European Journal of Pediatrics|March 1, 1990
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.
Pediatric Radiology|December 1, 2001
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasiasS Unger, M Le Merrer, P Meinecke, et al.
American Journal of Medical Genetics|September 1, 1989
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagenB Steinmann, A Superti-Furga, H I Joller-Jemelka, et al.
Journal of Medical Genetics|May 20, 2000
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counsellingJ Faber, A Winterpacht, B Zabel, et al.
Journal of Medical Genetics|August 1, 1996
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 small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.
American Journal of Medical Genetics. Part A|April 11, 2003
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomiaM Di Rocco, G Stella, C Bruno, 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.
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.
Helvetica Paediatrica Acta|August 1, 1988
Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrheaU A Hunziker, A Superti-Furga, M Zachmann, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiencyM Di Rocco, A Superti-Furga, P Durand, et al.
Pageof 14

Showing results (61-70 of 136) with videos related to

Sort By:
Pageof 14
European Journal of Pediatrics|March 1, 1990
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.
Pediatric Radiology|December 1, 2001
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasiasS Unger, M Le Merrer, P Meinecke, et al.
American Journal of Medical Genetics|September 1, 1989
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagenB Steinmann, A Superti-Furga, H I Joller-Jemelka, et al.
Journal of Medical Genetics|May 20, 2000
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counsellingJ Faber, A Winterpacht, B Zabel, et al.
Journal of Medical Genetics|August 1, 1996
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 small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.
American Journal of Medical Genetics. Part A|April 11, 2003
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomiaM Di Rocco, G Stella, C Bruno, 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.
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.
Helvetica Paediatrica Acta|August 1, 1988
Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrheaU A Hunziker, A Superti-Furga, M Zachmann, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiencyM Di Rocco, A Superti-Furga, P Durand, et al.
Pageof 14