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Human Genetics
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September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
B Fontaine, S Nicole, H Topaloglu, et al.
American Journal of Human Genetics
|
September 22, 2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation
D Rodriguez, F Gauthier, E Bertini, et al.
Journal of Medical Genetics
|
March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
V des Portes, J M Pinard, D Smadja, et al.
American Journal of Human Genetics
|
January 23, 1999
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
A Ducros, C Denier, A Joutel, et al.
Journal of Medical Genetics
|
October 18, 2005
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
S Tezenas du Montcel, F Clot, M Vidailhet, et al.
Neurology
|
March 26, 2008
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations
E Roze, E Apartis, F Clot, et al.
Page
of 16
Search research articles
Search
Showing results (151-160 of 156) with videos related to
Sort By:
Page
of 16
You have reached the last page of results.
This site can display upto 156 results.
Human Genetics
|
September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
B Fontaine, S Nicole, H Topaloglu, et al.
American Journal of Human Genetics
|
September 22, 2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation
D Rodriguez, F Gauthier, E Bertini, et al.
Journal of Medical Genetics
|
March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
V des Portes, J M Pinard, D Smadja, et al.
American Journal of Human Genetics
|
January 23, 1999
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
A Ducros, C Denier, A Joutel, et al.
Journal of Medical Genetics
|
October 18, 2005
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
S Tezenas du Montcel, F Clot, M Vidailhet, et al.
Neurology
|
March 26, 2008
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations
E Roze, E Apartis, F Clot, et al.
Page
of 16