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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
June 7, 2015
[Significance of the urine strip test in case of stunted growth]
A Bertholet-Thomas, B Llanas, A Servais, et al.
American Journal of Medical Genetics
|
December 20, 2000
Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH
C Goizet, E Excoffier, L Taine, et al.
Clinical Neurology and Neurosurgery
|
October 14, 2008
Leber's optic neuropathy associated with disseminated white matter disease: a case report and review
F Perez, O Anne, S Debruxelles, et al.
Neurology
|
March 27, 2002
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
C Goizet, B Catargi, F Tison, et al.
American Journal of Medical Genetics
|
July 24, 1998
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome
L Taine, C Goizet, Z Q Wen, et al.
Neurology
|
January 13, 2006
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
M Namekawa, P Ribai, I Nelson, et al.
Journal of the Peripheral Nervous System : JPNS
|
July 12, 2001
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations
A Vital, X Ferrer, A Lagueny, et al.
Clinical Genetics
|
May 15, 2009
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity
A Boukhris, G Stevanin, I Feki, et al.
European Journal of Medical Genetics
|
October 8, 2009
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
M J Alao, D Bonneau, M Holder-Espinasse, et al.
Journal of Medical Genetics
|
February 27, 2004
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C Goizet, R Ben Yaou, L Demay, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 49) with videos related to
Sort By:
Page
of 5
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
June 7, 2015
[Significance of the urine strip test in case of stunted growth]
A Bertholet-Thomas, B Llanas, A Servais, et al.
American Journal of Medical Genetics
|
December 20, 2000
Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH
C Goizet, E Excoffier, L Taine, et al.
Clinical Neurology and Neurosurgery
|
October 14, 2008
Leber's optic neuropathy associated with disseminated white matter disease: a case report and review
F Perez, O Anne, S Debruxelles, et al.
Neurology
|
March 27, 2002
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
C Goizet, B Catargi, F Tison, et al.
American Journal of Medical Genetics
|
July 24, 1998
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome
L Taine, C Goizet, Z Q Wen, et al.
Neurology
|
January 13, 2006
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
M Namekawa, P Ribai, I Nelson, et al.
Journal of the Peripheral Nervous System : JPNS
|
July 12, 2001
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations
A Vital, X Ferrer, A Lagueny, et al.
Clinical Genetics
|
May 15, 2009
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity
A Boukhris, G Stevanin, I Feki, et al.
European Journal of Medical Genetics
|
October 8, 2009
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
M J Alao, D Bonneau, M Holder-Espinasse, et al.
Journal of Medical Genetics
|
February 27, 2004
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C Goizet, R Ben Yaou, L Demay, et al.
Page
of 5