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J Bonaventure

Showing results (71-80 of 81) with videos related to

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Nature Genetics|March 1, 1994
A gene for achondroplasia-hypochondroplasia maps to chromosome 4pM Le Merrer, F Rousseau, L Legeai-Mallet, et al.
Journal of Medical Genetics|June 1, 1996
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasiaG A Wallis, B Rash, B Sykes, et al.
The Biochemical Journal|May 1, 1995
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, et al.
Clinical Genetics|November 15, 2005
Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genesM Krahn, S Julia, S Sigaudy, et al.
Journal of Neurosurgery|March 6, 1999
Clinical variability in patients with Apert's syndromeE Lajeunie, R Cameron, V El Ghouzzi, et al.
Nature Genetics|January 1, 1997
Mutations of the TWIST gene in the Saethre-Chotzen syndromeV el Ghouzzi, M Le Merrer, F Perrin-Schmitt, et al.
Human Genetics|February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasiaT Sulisalo, I van der Burgt, D L Rimoin, et al.
American Journal of Human Genetics|August 27, 1998
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin, J K Szabo, R Cameron, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
The American Journal of Pathology|June 8, 2001
Frequent FGFR3 mutations in papillary non-invasive bladder (pTa) tumorsC Billerey, D Chopin, M H Aubriot-Lorton, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
Nature Genetics|March 1, 1994
A gene for achondroplasia-hypochondroplasia maps to chromosome 4pM Le Merrer, F Rousseau, L Legeai-Mallet, et al.
Journal of Medical Genetics|June 1, 1996
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasiaG A Wallis, B Rash, B Sykes, et al.
The Biochemical Journal|May 1, 1995
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationshipsJ Bonaventure, L Cohen-Solal, P Ritvaniemi, et al.
Clinical Genetics|November 15, 2005
Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genesM Krahn, S Julia, S Sigaudy, et al.
Journal of Neurosurgery|March 6, 1999
Clinical variability in patients with Apert's syndromeE Lajeunie, R Cameron, V El Ghouzzi, et al.
Nature Genetics|January 1, 1997
Mutations of the TWIST gene in the Saethre-Chotzen syndromeV el Ghouzzi, M Le Merrer, F Perrin-Schmitt, et al.
Human Genetics|February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasiaT Sulisalo, I van der Burgt, D L Rimoin, et al.
American Journal of Human Genetics|August 27, 1998
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin, J K Szabo, R Cameron, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
The American Journal of Pathology|June 8, 2001
Frequent FGFR3 mutations in papillary non-invasive bladder (pTa) tumorsC Billerey, D Chopin, M H Aubriot-Lorton, et al.
Pageof 9