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Showing results (201-210 of 255) with videos related to

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European Journal of Pediatrics|June 2, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chartJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 29, 2000
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypesJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
The Journal of Investigative Dermatology|October 9, 1998
(Pheo)melanin photosensitizes UVA-induced DNA damage in cultured human melanocytesE Wenczl, G P Van der Schans, L Roza, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1997
Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering CommitteeF J van Spronsen, P H Verkerk, M van Houten, et al.
Journal of Inherited Metabolic Disease|August 1, 1997
Abnormal glutathione conjugation in patients with tyrosinaemia type IT M Mulders, D J Bergman, B T Poll-The, et al.
European Journal of Clinical Pharmacology|September 30, 2015
Pharmacokinetics of clomipramine during pregnancyP G J Ter Horst, J H Proost, J P Smit, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disordersM H Ruiters, E A van Spronsen, O H Skjeldal, et al.
Genomics|June 1, 1994
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)J Hendrickx, P Coucke, M C Hors-Cayla, et al.
Archives of Dermatological Research|August 15, 1998
Variations in melanin formation by cultured melanocytes from different skin typesN P Smit, R M Kolb, E G Lentjes, et al.
Pageof 26

Showing results (201-210 of 255) with videos related to

Sort By:
Pageof 26
European Journal of Pediatrics|June 2, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chartJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 29, 2000
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypesJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
The Journal of Investigative Dermatology|October 9, 1998
(Pheo)melanin photosensitizes UVA-induced DNA damage in cultured human melanocytesE Wenczl, G P Van der Schans, L Roza, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1997
Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering CommitteeF J van Spronsen, P H Verkerk, M van Houten, et al.
Journal of Inherited Metabolic Disease|August 1, 1997
Abnormal glutathione conjugation in patients with tyrosinaemia type IT M Mulders, D J Bergman, B T Poll-The, et al.
European Journal of Clinical Pharmacology|September 30, 2015
Pharmacokinetics of clomipramine during pregnancyP G J Ter Horst, J H Proost, J P Smit, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disordersM H Ruiters, E A van Spronsen, O H Skjeldal, et al.
Genomics|June 1, 1994
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)J Hendrickx, P Coucke, M C Hors-Cayla, et al.
Archives of Dermatological Research|August 15, 1998
Variations in melanin formation by cultured melanocytes from different skin typesN P Smit, R M Kolb, E G Lentjes, et al.
Pageof 26