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American Journal of Medical Genetics. Part A
|
May 17, 2007
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome
A L Mosca, P Callier, B Leheup, et al.
Clinical Genetics
|
July 26, 2017
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects
R M Guéant-Rodriguez, C Chery, B-M Caillierez-Fofou, et al.
European Journal of Clinical Nutrition
|
March 9, 2006
Randomised controlled trial of essential fatty acid supplementation in phenylketonuria
M A Cleary, F Feillet, F J White, et al.
Molecular Genetics and Metabolism Reports
|
October 21, 2016
30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case
J Do Cao, A Wiedemann, T Quinaux, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
December 19, 2017
Impact of obesity on biomarkers of iron and vitamin D status in children and adolescents: The risk of misinterpretation
M-L Frelut, J-P Girardet, A Bocquet, et al.
The Journal of Clinical Investigation
|
July 7, 1999
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts
V Procaccio, B Mousson, R Beugnot, et al.
Molecular Genetics and Metabolism
|
September 11, 2013
Main issues in micronutrient supplementation in phenylketonuria
A M Lammardo, M Robert, J C Rocha, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2007
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
B K Burton, D K Grange, A Milanowski, et al.
Molecular Genetics and Metabolism
|
October 12, 2013
Micronutrient status in phenylketonuria
M Robert, J C Rocha, M van Rijn, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 18, 2018
Hypercholesterolemia in children: Why and how to screen for it?
J-P Girardet, A Bocquet, J P Chouraqui, et al.
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of 8
Search research articles
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Showing results (41-50 of 79) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
May 17, 2007
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome
A L Mosca, P Callier, B Leheup, et al.
Clinical Genetics
|
July 26, 2017
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects
R M Guéant-Rodriguez, C Chery, B-M Caillierez-Fofou, et al.
European Journal of Clinical Nutrition
|
March 9, 2006
Randomised controlled trial of essential fatty acid supplementation in phenylketonuria
M A Cleary, F Feillet, F J White, et al.
Molecular Genetics and Metabolism Reports
|
October 21, 2016
30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case
J Do Cao, A Wiedemann, T Quinaux, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
December 19, 2017
Impact of obesity on biomarkers of iron and vitamin D status in children and adolescents: The risk of misinterpretation
M-L Frelut, J-P Girardet, A Bocquet, et al.
The Journal of Clinical Investigation
|
July 7, 1999
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts
V Procaccio, B Mousson, R Beugnot, et al.
Molecular Genetics and Metabolism
|
September 11, 2013
Main issues in micronutrient supplementation in phenylketonuria
A M Lammardo, M Robert, J C Rocha, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2007
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
B K Burton, D K Grange, A Milanowski, et al.
Molecular Genetics and Metabolism
|
October 12, 2013
Micronutrient status in phenylketonuria
M Robert, J C Rocha, M van Rijn, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 18, 2018
Hypercholesterolemia in children: Why and how to screen for it?
J-P Girardet, A Bocquet, J P Chouraqui, et al.
Page
of 8