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Clinical Genetics
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September 17, 2003
Niemann-Pick disease type C
M T Vanier, G Millat
Revue Neurologique
|
April 1, 2014
[KCNH2 gene new mutation in a patient with prior diagnosis of epilepsy]
A Chanséaume, G Millat, A Roux
The Biochemical Journal
|
August 15, 1997
Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
G Millat, R Froissart, I Maire, et al.
Experimental Cell Research
|
February 1, 1997
IDS transfer from overexpressing cells to IDS-deficient cells
G Millat, R Froissart, I Maire, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1996
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations
A Tylki-Szymańska, G Millat, I Maire, et al.
La Revue De Medecine Interne
|
January 8, 2011
[Fabry disease among hypertrophic cardiomyopathy of genetic origin]
P Bouvagnet, G Millat, R Rousson, et al.
The Biochemical Journal
|
July 15, 1995
Processing of iduronate 2-sulphatase in human fibroblasts
R Froissart, G Millat, M Mathieu, et al.
Biochimica Et Biophysica Acta
|
June 13, 1998
COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations
G Millat, R Froissart, S Cudry, et al.
European Journal of Medical Genetics
|
February 9, 2012
Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy
V Chanavat, M F Seronde, P Bouvagnet, et al.
Clinical Genetics
|
May 2, 2007
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2
L Verot, K Chikh, E Freydière, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
Clinical Genetics
|
September 17, 2003
Niemann-Pick disease type C
M T Vanier, G Millat
Revue Neurologique
|
April 1, 2014
[KCNH2 gene new mutation in a patient with prior diagnosis of epilepsy]
A Chanséaume, G Millat, A Roux
The Biochemical Journal
|
August 15, 1997
Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
G Millat, R Froissart, I Maire, et al.
Experimental Cell Research
|
February 1, 1997
IDS transfer from overexpressing cells to IDS-deficient cells
G Millat, R Froissart, I Maire, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1996
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations
A Tylki-Szymańska, G Millat, I Maire, et al.
La Revue De Medecine Interne
|
January 8, 2011
[Fabry disease among hypertrophic cardiomyopathy of genetic origin]
P Bouvagnet, G Millat, R Rousson, et al.
The Biochemical Journal
|
July 15, 1995
Processing of iduronate 2-sulphatase in human fibroblasts
R Froissart, G Millat, M Mathieu, et al.
Biochimica Et Biophysica Acta
|
June 13, 1998
COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations
G Millat, R Froissart, S Cudry, et al.
European Journal of Medical Genetics
|
February 9, 2012
Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy
V Chanavat, M F Seronde, P Bouvagnet, et al.
Clinical Genetics
|
May 2, 2007
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2
L Verot, K Chikh, E Freydière, et al.
Page
of 3