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Journal of Inherited Metabolic Disease
|
November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff disease
S B Wortmann, D J Lefeber, G Dekomien, et al.
Molecular Genetics and Metabolism
|
November 21, 2018
The challenge of CDG diagnosis
R Francisco, D Marques-da-Silva, S Brasil, et al.
European Journal of Ophthalmology
|
February 24, 2006
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome
E Morava, M A Willemsen, S Wopereis, et al.
Journal of Inherited Metabolic Disease
|
August 7, 2001
Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome
G Tóth, E Morava, J Bene, et al.
Journal of Inherited Metabolic Disease
|
September 10, 2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
E Morava, S B Wortmann, H Zweers van Essen, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2011
Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin
T Gardeitchik, N de Leeuw, L Nijtmans, et al.
Neuromuscular Disorders : NMD
|
January 5, 2000
Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies
A Herczegfalvi, G Tóth, P Gyürüs, et al.
Neurology
|
November 30, 2006
Mitochondrial disease criteria: diagnostic applications in children
E Morava, L van den Heuvel, F Hol, et al.
European Journal of Public Health
|
March 30, 2001
Do health behaviour and psychosocial risk factors explain the European east-west gap in health status?
M Laaksonen, A L McAlister, T Laatikainen, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2008
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps
E Morava, H Wosik, J Kárteszi, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 96) with videos related to
Sort By:
Page
of 10
Journal of Inherited Metabolic Disease
|
November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff disease
S B Wortmann, D J Lefeber, G Dekomien, et al.
Molecular Genetics and Metabolism
|
November 21, 2018
The challenge of CDG diagnosis
R Francisco, D Marques-da-Silva, S Brasil, et al.
European Journal of Ophthalmology
|
February 24, 2006
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome
E Morava, M A Willemsen, S Wopereis, et al.
Journal of Inherited Metabolic Disease
|
August 7, 2001
Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome
G Tóth, E Morava, J Bene, et al.
Journal of Inherited Metabolic Disease
|
September 10, 2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
E Morava, S B Wortmann, H Zweers van Essen, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2011
Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin
T Gardeitchik, N de Leeuw, L Nijtmans, et al.
Neuromuscular Disorders : NMD
|
January 5, 2000
Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies
A Herczegfalvi, G Tóth, P Gyürüs, et al.
Neurology
|
November 30, 2006
Mitochondrial disease criteria: diagnostic applications in children
E Morava, L van den Heuvel, F Hol, et al.
European Journal of Public Health
|
March 30, 2001
Do health behaviour and psychosocial risk factors explain the European east-west gap in health status?
M Laaksonen, A L McAlister, T Laatikainen, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2008
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps
E Morava, H Wosik, J Kárteszi, et al.
Page
of 10