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Céline Huber

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Best Practice & Research. Clinical Endocrinology & Metabolism|March 15, 2011
The 3M syndromeCéline Huber, Arnold Munnich, Valerie Cormier-Daire
European Journal of Medical Genetics|January 17, 2023
An intermediate phenotype in IDH related enchondromatosis spectrumElif Yilmaz-Gulec, Pauline Marzin, Céline Huber-Lequesne, et al.
Scientific Reports|November 24, 2017
Energy expenditure estimation from respiration variablesRahel Gilgen-Ammann, Marcel Koller, Céline Huber, et al.
Human Molecular Genetics|April 30, 2002
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophySuzie Lefebvre, Philippe Burlet, Louis Viollet, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 23, 2024
Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocationsMiriam Villegas Villarroel, Céline Huber, Geneviève Baujat, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2012
Genotypes and phenotypes of children with SHOX deficiency in FranceMyriam Rosilio, Céline Huber-Lequesne, Hélène Sapin, et al.
American Journal of Medical Genetics. Part A|February 16, 2019
Mutations in IFT80 cause SRPS Type IV. Report of two families and reviewVaroona Bizaoui, Céline Huber, Eva Kohaut, et al.
Human Mutation|September 5, 2017
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defectsSomadri Ghosh, Céline Huber, Quentin Siour, et al.
Clinical Dysmorphology|March 9, 2011
Hip dislocation in 3-M syndrome: risk of misdiagnosisAlina Badina, Zagorka Pejin, Thierry Odent, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
A new osteogenesis imperfecta with improvement over time maps to 11qAgnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, et al.
Pageof 5

Showing results (1-10 of 50) with videos related to

Sort By:
Pageof 5
Best Practice & Research. Clinical Endocrinology & Metabolism|March 15, 2011
The 3M syndromeCéline Huber, Arnold Munnich, Valerie Cormier-Daire
European Journal of Medical Genetics|January 17, 2023
An intermediate phenotype in IDH related enchondromatosis spectrumElif Yilmaz-Gulec, Pauline Marzin, Céline Huber-Lequesne, et al.
Scientific Reports|November 24, 2017
Energy expenditure estimation from respiration variablesRahel Gilgen-Ammann, Marcel Koller, Céline Huber, et al.
Human Molecular Genetics|April 30, 2002
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophySuzie Lefebvre, Philippe Burlet, Louis Viollet, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 23, 2024
Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocationsMiriam Villegas Villarroel, Céline Huber, Geneviève Baujat, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2012
Genotypes and phenotypes of children with SHOX deficiency in FranceMyriam Rosilio, Céline Huber-Lequesne, Hélène Sapin, et al.
American Journal of Medical Genetics. Part A|February 16, 2019
Mutations in IFT80 cause SRPS Type IV. Report of two families and reviewVaroona Bizaoui, Céline Huber, Eva Kohaut, et al.
Human Mutation|September 5, 2017
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defectsSomadri Ghosh, Céline Huber, Quentin Siour, et al.
Clinical Dysmorphology|March 9, 2011
Hip dislocation in 3-M syndrome: risk of misdiagnosisAlina Badina, Zagorka Pejin, Thierry Odent, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
A new osteogenesis imperfecta with improvement over time maps to 11qAgnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, et al.
Pageof 5