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Annales D'Endocrinologie
|
July 1, 1979
[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)]
M David, C Dorche, G Teyssier, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Citrullinaemia and isolated sulphite oxidase deficiency in two siblings
L Vilarinho, J R Alves, C Dorche, et al.
La Nouvelle Presse Medicale
|
April 21, 1979
[Systematic neonatal screening for Duchenne muscular dystrophy]
C Dellamonica, J M Robert, J Cotte, et al.
Annales De Biologie Clinique
|
June 26, 2004
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments]
D Cheillan, S Cognat, C Vianey-Saban, et al.
Neuropediatrics
|
December 1, 1995
A mild form of infantile isolated sulphite oxidase deficiency
C Barbot, E Martins, L Vilarinho, et al.
Human Genetics
|
January 28, 1999
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
J Reiss, E Christensen, G Kurlemann, et al.
Archives Francaises De Pediatrie
|
January 1, 1987
[Neonatal screening of congenital hyperplasia of the adrenal glands caused by 21-hydroxylase deficiency. Realities and perspectives]
J P Farriaux, J L Dhondt, C Dorche, et al.
Pediatrie
|
January 1, 1971
[2 cases of double heterozygosity of the Duarte galactosemic type discovered by way of systematic detection]
M David, C Dorche, C Kissin, 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.
Journal of Inherited Metabolic Disease
|
October 13, 1999
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
F M Carragher, J M Kirk, C Steer, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 48) with videos related to
Sort By:
Page
of 5
Annales D'Endocrinologie
|
July 1, 1979
[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)]
M David, C Dorche, G Teyssier, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Citrullinaemia and isolated sulphite oxidase deficiency in two siblings
L Vilarinho, J R Alves, C Dorche, et al.
La Nouvelle Presse Medicale
|
April 21, 1979
[Systematic neonatal screening for Duchenne muscular dystrophy]
C Dellamonica, J M Robert, J Cotte, et al.
Annales De Biologie Clinique
|
June 26, 2004
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments]
D Cheillan, S Cognat, C Vianey-Saban, et al.
Neuropediatrics
|
December 1, 1995
A mild form of infantile isolated sulphite oxidase deficiency
C Barbot, E Martins, L Vilarinho, et al.
Human Genetics
|
January 28, 1999
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
J Reiss, E Christensen, G Kurlemann, et al.
Archives Francaises De Pediatrie
|
January 1, 1987
[Neonatal screening of congenital hyperplasia of the adrenal glands caused by 21-hydroxylase deficiency. Realities and perspectives]
J P Farriaux, J L Dhondt, C Dorche, et al.
Pediatrie
|
January 1, 1971
[2 cases of double heterozygosity of the Duarte galactosemic type discovered by way of systematic detection]
M David, C Dorche, C Kissin, 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.
Journal of Inherited Metabolic Disease
|
October 13, 1999
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
F M Carragher, J M Kirk, C Steer, et al.
Page
of 5