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Journal of Inherited Metabolic Disease
|
January 1, 1993
Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases
R Dumoulin, G Mandon, J M Collombet, et al.
Human Genetics
|
February 1, 1991
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus
M Berthelon, C Caillaud, F Rey, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case
N Guffon, C Lopez-Mediavilla, R Dumoulin, et al.
Journal De Genetique Humaine
|
January 1, 1989
[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon]
P Guibaud, M Auvinet, D Bozon, et al.
The New England Journal of Medicine
|
July 18, 1985
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
W S Sly, M P Whyte, V Sundaram, et al.
Human Genetics
|
October 6, 1998
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
B Thöny, F Neuheiser, L Kierat, et al.
Bone Marrow Transplantation
|
June 11, 2003
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
G Souillet, N Guffon, I Maire, et al.
Page
of 15
Search research articles
Search
Showing results (141-150 of 147) with videos related to
Sort By:
Page
of 15
You have reached the last page of results.
This site can display upto 147 results.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases
R Dumoulin, G Mandon, J M Collombet, et al.
Human Genetics
|
February 1, 1991
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus
M Berthelon, C Caillaud, F Rey, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case
N Guffon, C Lopez-Mediavilla, R Dumoulin, et al.
Journal De Genetique Humaine
|
January 1, 1989
[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon]
P Guibaud, M Auvinet, D Bozon, et al.
The New England Journal of Medicine
|
July 18, 1985
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
W S Sly, M P Whyte, V Sundaram, et al.
Human Genetics
|
October 6, 1998
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
B Thöny, F Neuheiser, L Kierat, et al.
Bone Marrow Transplantation
|
June 11, 2003
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
G Souillet, N Guffon, I Maire, et al.
Page
of 15