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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 analysis
S 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 lipomas
A 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 syndrome
L Faivre, R J Gorlin, M K Wirtz, et al.
Clinical Genetics
|
May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity
C Jung, N Dagoneau, G Baujat, et al.
American Journal of Human Genetics
|
October 3, 1998
A gene for Meckel syndrome maps to chromosome 11q13
J 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 assays
L 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 EYA1
S Abdelhak, V Kalatzis, R Heilig, et al.
Page
of 19
Search research articles
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Showing results (161-170 of 188) with videos related to
Sort By:
Page
of 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 analysis
S 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 lipomas
A 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 syndrome
L Faivre, R J Gorlin, M K Wirtz, et al.
Clinical Genetics
|
May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity
C Jung, N Dagoneau, G Baujat, et al.
American Journal of Human Genetics
|
October 3, 1998
A gene for Meckel syndrome maps to chromosome 11q13
J 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 assays
L 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 EYA1
S Abdelhak, V Kalatzis, R Heilig, et al.
Page
of 19