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A Giedion

Showing results (41-50 of 49) with videos related to

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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 achondroplasiaA Superti-Furga, G Eich, H U Bucher, et al.
The Journal of Pediatrics|April 1, 1988
Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitoninS Fanconi, J A Fischer, P Wieland, et al.
Birth Defects Original Article Series|January 1, 1974
Langer-Giedion syndromeB D Hall, L O Langer, A Giedion, et al.
American Journal of Medical Genetics|November 7, 1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)T Pihlajamaa, D J Prockop, J Faber, et al.
European Journal of Pediatrics|March 1, 1997
Heterogeneity in Schwartz-Jampel chondrodystrophic myotoniaA Giedion, E Boltshauser, J Briner, et al.
American Journal of Medical Genetics|September 15, 1992
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of BoneP Beighton, Z A Giedion, R Gorlin, et al.
Journal of Medical Genetics|December 20, 2003
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutationsE Jakkula, J Lohiniva, A Capone, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
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 achondroplasiaA Superti-Furga, G Eich, H U Bucher, et al.
The Journal of Pediatrics|April 1, 1988
Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitoninS Fanconi, J A Fischer, P Wieland, et al.
Birth Defects Original Article Series|January 1, 1974
Langer-Giedion syndromeB D Hall, L O Langer, A Giedion, et al.
American Journal of Medical Genetics|November 7, 1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)T Pihlajamaa, D J Prockop, J Faber, et al.
European Journal of Pediatrics|March 1, 1997
Heterogeneity in Schwartz-Jampel chondrodystrophic myotoniaA Giedion, E Boltshauser, J Briner, et al.
American Journal of Medical Genetics|September 15, 1992
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of BoneP Beighton, Z A Giedion, R Gorlin, et al.
Journal of Medical Genetics|December 20, 2003
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutationsE Jakkula, J Lohiniva, A Capone, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.
Pageof 5