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Orphanet Journal of Rare Diseases
|
November 25, 2021
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE
D Druschke, F Krause, G Müller, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency
M Wajner, S Kölker, D O Souza, et al.
Journal of Inherited Metabolic Disease
|
June 29, 1999
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading
N Blau, B Thöny, A Renneberg, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Neonatal screening for glutaryl-CoA dehydrogenase deficiency
M Lindner, S Kölker, A Schulze, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 31, 1993
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency
K M Gibson, F Stellaard, G F Hoffmann, et al.
Endocrinology
|
May 15, 2003
Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cells
M Hömme, C P Schmitt, R Himmele, et al.
Molecular Genetics and Metabolism
|
February 19, 2020
Cardiac phenotype in propionic acidemia - Results of an observational monocentric study
A Kovacevic, S F Garbade, G F Hoffmann, et al.
European Journal of Pediatrics
|
August 1, 1997
Protein turnover in critically ill children
O A Bodamer, J V Leonard, R C Tasker, et al.
American Journal of Medical Genetics
|
October 21, 1999
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2
B Streubel, E Latta, H Kehrer-Sawatzki, et al.
Neuropediatrics
|
April 25, 2001
Myotonic dystrophy associated with VACTERL? A case report
S Kölker, I Degen, M C Koch, et al.
Page
of 22
Search research articles
Search
Showing results (91-100 of 214) with videos related to
Sort By:
Page
of 22
Orphanet Journal of Rare Diseases
|
November 25, 2021
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE
D Druschke, F Krause, G Müller, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency
M Wajner, S Kölker, D O Souza, et al.
Journal of Inherited Metabolic Disease
|
June 29, 1999
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading
N Blau, B Thöny, A Renneberg, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Neonatal screening for glutaryl-CoA dehydrogenase deficiency
M Lindner, S Kölker, A Schulze, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 31, 1993
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency
K M Gibson, F Stellaard, G F Hoffmann, et al.
Endocrinology
|
May 15, 2003
Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cells
M Hömme, C P Schmitt, R Himmele, et al.
Molecular Genetics and Metabolism
|
February 19, 2020
Cardiac phenotype in propionic acidemia - Results of an observational monocentric study
A Kovacevic, S F Garbade, G F Hoffmann, et al.
European Journal of Pediatrics
|
August 1, 1997
Protein turnover in critically ill children
O A Bodamer, J V Leonard, R C Tasker, et al.
American Journal of Medical Genetics
|
October 21, 1999
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2
B Streubel, E Latta, H Kehrer-Sawatzki, et al.
Neuropediatrics
|
April 25, 2001
Myotonic dystrophy associated with VACTERL? A case report
S Kölker, I Degen, M C Koch, et al.
Page
of 22