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M le Merrer

Showing results (111-120 of 188) with videos related to

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American Journal of Medical Genetics|March 17, 1997
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndromeV Cormier-Daire, M Le Merrer, N Gigarel, et al.
Journal of Medical Genetics|February 12, 2002
Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?J Amiel, L Faivre, L Wilson, et al.
Journal of Medical Genetics|March 3, 2001
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphismV Cormier-Daire, J Amiel, S Vuillaumier-Barrot, et al.
Clinical Genetics|July 6, 2005
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutationM Gonzales, S Heuertz, J Martinovic, et al.
The Journal of Clinical Endocrinology and Metabolism|September 16, 1999
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasiaE Schipani, C Langman, J Hunzelman, et al.
Journal of Medical Genetics|October 1, 1992
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24)M Le Merrer, K Ben Othmane, V Stanescu, et al.
Nature|September 15, 1994
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
Human Genetics|December 1, 1995
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosisH W Ma, E Lajeunie, M Le Merrer, et al.
Hormone Research|January 1, 1996
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
American Journal of Medical Genetics. Part A|May 13, 2008
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneityB Isidor, V Cormier-Daire, M Le Merrer, et al.
Pageof 19

Showing results (111-120 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics|March 17, 1997
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndromeV Cormier-Daire, M Le Merrer, N Gigarel, et al.
Journal of Medical Genetics|February 12, 2002
Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?J Amiel, L Faivre, L Wilson, et al.
Journal of Medical Genetics|March 3, 2001
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphismV Cormier-Daire, J Amiel, S Vuillaumier-Barrot, et al.
Clinical Genetics|July 6, 2005
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutationM Gonzales, S Heuertz, J Martinovic, et al.
The Journal of Clinical Endocrinology and Metabolism|September 16, 1999
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasiaE Schipani, C Langman, J Hunzelman, et al.
Journal of Medical Genetics|October 1, 1992
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24)M Le Merrer, K Ben Othmane, V Stanescu, et al.
Nature|September 15, 1994
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
Human Genetics|December 1, 1995
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosisH W Ma, E Lajeunie, M Le Merrer, et al.
Hormone Research|January 1, 1996
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
American Journal of Medical Genetics. Part A|May 13, 2008
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneityB Isidor, V Cormier-Daire, M Le Merrer, et al.
Pageof 19