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Lancet (London, England)
|
March 25, 1989
Duchenne muscular dystrophy: neonatal screening and prenatal diagnosis
H Plauchu, C Dorche, M P Cordier, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2004
CDG IIx with unusual phenotype
D Cheillan, S Cognat, C Dorche, et al.
Pediatrie
|
January 1, 1974
[Systematic detection of phenylketonuria at birth in the Rhone-Alps region]
C Dorche, M O Rolland, C Collombel, et al.
Pediatrie
|
September 1, 1979
[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis]
J Bienvenu, M Mathieu, C Collombel, et al.
American Journal of Human Genetics
|
March 3, 1999
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B
J Reiss, C Dorche, B Stallmeyer, et al.
Pediatrie
|
January 1, 1974
[2 infants born of a mother with phenylketonuria. Failure of a low phenylalanine diet during the 2d pregnancy]
M Bovier-Lapierre, C Saint-Dizier, F Freycon, et al.
Archives Francaises De Pediatrie
|
December 1, 1978
[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]
P Guibaud, H Carrier, M Mathieu, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?
D Cheillan, M Vercherat, F Chevalier-Porst, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
C Vianey-Liaud, P Desjacques, J Gaulme, et al.
Pediatrie
|
December 1, 1978
[Systematic screening for congenital hypothyroidism by determination of TSH in dried blood samples: results of experience during a 21-month period]
M David, C Dorche, M O Rolland, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 48) with videos related to
Sort By:
Page
of 5
Lancet (London, England)
|
March 25, 1989
Duchenne muscular dystrophy: neonatal screening and prenatal diagnosis
H Plauchu, C Dorche, M P Cordier, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2004
CDG IIx with unusual phenotype
D Cheillan, S Cognat, C Dorche, et al.
Pediatrie
|
January 1, 1974
[Systematic detection of phenylketonuria at birth in the Rhone-Alps region]
C Dorche, M O Rolland, C Collombel, et al.
Pediatrie
|
September 1, 1979
[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis]
J Bienvenu, M Mathieu, C Collombel, et al.
American Journal of Human Genetics
|
March 3, 1999
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B
J Reiss, C Dorche, B Stallmeyer, et al.
Pediatrie
|
January 1, 1974
[2 infants born of a mother with phenylketonuria. Failure of a low phenylalanine diet during the 2d pregnancy]
M Bovier-Lapierre, C Saint-Dizier, F Freycon, et al.
Archives Francaises De Pediatrie
|
December 1, 1978
[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]
P Guibaud, H Carrier, M Mathieu, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?
D Cheillan, M Vercherat, F Chevalier-Porst, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
C Vianey-Liaud, P Desjacques, J Gaulme, et al.
Pediatrie
|
December 1, 1978
[Systematic screening for congenital hypothyroidism by determination of TSH in dried blood samples: results of experience during a 21-month period]
M David, C Dorche, M O Rolland, et al.
Page
of 5