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Journal of Medical Genetics
|
October 4, 2000
MPS II in females: molecular basis of two different cases
S Cudry, I Tigaud, R Froissart, et al.
Acta Neuropathologica
|
January 1, 1990
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency
H Carrier, I Maire, C Vial, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation
N Guffon, G Souillet, I Maire, 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.
Annales De Biologie Clinique
|
January 1, 1989
[Optimization of the determination in urine of alanine aminopeptidase, gamma-glutamyltransferase and N acetyl-beta-D-glucosaminidase]
C Flandrois, C Lahet, D Feldmann, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Prenatal diagnosis of cystic fibrosis: experience of two complementary methods
D Bozon, I Maire, A Vialle, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Second trimester prenatal diagnosis of Sanfilippo syndrome type C
I Maire, S Epelbaum, M Piraud, et al.
Lancet (London, England)
|
May 19, 1979
Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease
J L Touraine, M C Malik, J Traeger, et al.
Human Genetics
|
March 7, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
R Vervoort, R Gitzelmann, N Bosshard, et al.
Archives Francaises De Pediatrie
|
October 1, 1981
[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]
G Teyssier, I Maire, G Damon, et al.
Page
of 13
Search research articles
Search
Showing results (51-60 of 121) with videos related to
Sort By:
Page
of 13
Journal of Medical Genetics
|
October 4, 2000
MPS II in females: molecular basis of two different cases
S Cudry, I Tigaud, R Froissart, et al.
Acta Neuropathologica
|
January 1, 1990
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency
H Carrier, I Maire, C Vial, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation
N Guffon, G Souillet, I Maire, 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.
Annales De Biologie Clinique
|
January 1, 1989
[Optimization of the determination in urine of alanine aminopeptidase, gamma-glutamyltransferase and N acetyl-beta-D-glucosaminidase]
C Flandrois, C Lahet, D Feldmann, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Prenatal diagnosis of cystic fibrosis: experience of two complementary methods
D Bozon, I Maire, A Vialle, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Second trimester prenatal diagnosis of Sanfilippo syndrome type C
I Maire, S Epelbaum, M Piraud, et al.
Lancet (London, England)
|
May 19, 1979
Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease
J L Touraine, M C Malik, J Traeger, et al.
Human Genetics
|
March 7, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
R Vervoort, R Gitzelmann, N Bosshard, et al.
Archives Francaises De Pediatrie
|
October 1, 1981
[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]
G Teyssier, I Maire, G Damon, et al.
Page
of 13