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Archives of Disease in Childhood. Fetal and Neonatal Edition
|
February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
S Bagci, J Zschocke, G F Hoffmann, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
Sabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Plos Neglected Tropical Diseases
|
February 18, 2021
Identifying and validating the presence of Guanine-Quadruplexes (G4) within the blood fluke parasite Schistosoma mansoni
Holly M Craven, Riccardo Bonsignore, Vasilis Lenis, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1997
Association of extracolonic manifestations of familial adenomatous polyposis with acetylation phenotype in a large FAP kindred
R J Scott, W Taeschner, K Heinimann, et al.
Pediatric Research
|
March 22, 2006
Phenylalanine reduces synaptic density in mixed cortical cultures from mice
Friederike Hörster, Marina A Schwab, Sven W Sauer, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland
Susanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency
S Kölker, D M Koeller, S Sauer, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|
February 1, 2007
Qualitative and quantitative analysis of antibody response against IFNbeta in patients with multiple sclerosis
F Gilli, F Hoffmann, A Sala, et al.
International Journal of Neonatal Screening
|
March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Page
of 108
Search research articles
Search
Showing results (621-630 of 1,073) with videos related to
Sort By:
Page
of 108
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
S Bagci, J Zschocke, G F Hoffmann, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
Sabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Plos Neglected Tropical Diseases
|
February 18, 2021
Identifying and validating the presence of Guanine-Quadruplexes (G4) within the blood fluke parasite Schistosoma mansoni
Holly M Craven, Riccardo Bonsignore, Vasilis Lenis, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1997
Association of extracolonic manifestations of familial adenomatous polyposis with acetylation phenotype in a large FAP kindred
R J Scott, W Taeschner, K Heinimann, et al.
Pediatric Research
|
March 22, 2006
Phenylalanine reduces synaptic density in mixed cortical cultures from mice
Friederike Hörster, Marina A Schwab, Sven W Sauer, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland
Susanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency
S Kölker, D M Koeller, S Sauer, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|
February 1, 2007
Qualitative and quantitative analysis of antibody response against IFNbeta in patients with multiple sclerosis
F Gilli, F Hoffmann, A Sala, et al.
International Journal of Neonatal Screening
|
March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Page
of 108