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M Le Merrer

Showing results (161-170 of 188) with videos related to

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American Journal of Medical Genetics. Part A|May 27, 2010
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysisS Marlin, H Ducou Le Pointe, M Le Merrer, et al.
Pathologie-Biologie|February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]D Bonneau, S Marlin, D Sanlaville, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 1, 1997
Congenital lumbosacral lipomasA Pierre-Kahn, M Zerah, D Renier, et al.
Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.
Clinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.
American Journal of Human Genetics|October 3, 1998
A gene for Meckel syndrome maps to chromosome 11q13J Roume, E Genin, V Cormier-Daire, et al.
European Journal of Medical Genetics|August 28, 2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)P Callier, L Faivre, N Marle, et al.
Clinical Genetics|November 15, 2000
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)M Q Xu, G Feldman, M Le Merrer, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Human Molecular Genetics|March 21, 1998
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1S Abdelhak, V Kalatzis, R Heilig, et al.
Pageof 19

Showing results (161-170 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|May 27, 2010
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysisS Marlin, H Ducou Le Pointe, M Le Merrer, et al.
Pathologie-Biologie|February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]D Bonneau, S Marlin, D Sanlaville, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 1, 1997
Congenital lumbosacral lipomasA Pierre-Kahn, M Zerah, D Renier, et al.
Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.
Clinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.
American Journal of Human Genetics|October 3, 1998
A gene for Meckel syndrome maps to chromosome 11q13J Roume, E Genin, V Cormier-Daire, et al.
European Journal of Medical Genetics|August 28, 2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)P Callier, L Faivre, N Marle, et al.
Clinical Genetics|November 15, 2000
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)M Q Xu, G Feldman, M Le Merrer, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Human Molecular Genetics|March 21, 1998
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1S Abdelhak, V Kalatzis, R Heilig, et al.
Pageof 19