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European Journal of Pediatrics
|
December 1, 1990
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies
G C Korenke, H A Bentlage, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2002
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry
K Gempel, S Kiechl, S Hofmann, et al.
Nature Communications
|
November 21, 2025
ER protein CLCC1 promotes nuclear envelope fusion in herpesviral and host processes
Bing Dai, Adrian W Sperl, Lucas Polack, et al.
Plos Pathogens
|
February 5, 2026
Isolation and characterization of broadly-neutralizing anti-HCMV-gB antibodies from human donors using a prefusion-stabilized HCMV gB variant
Maria K McClave, Yu-Hsin Wan, Ellen M White, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
August 3, 2021
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]
J A Mayr, R G Feichtinger, M T Achleitner, et al.
Neuromuscular Disorders : NMD
|
October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
W Sperl, P Jesina, J Zeman, et al.
Journal of Inherited Metabolic Disease
|
November 20, 2009
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome
E Quintana, J A Mayr, M T García Silva, et al.
Molecular Genetics and Metabolism Reports
|
May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
E Ciara, D Rokicki, P Halat, et al.
Hepatology (Baltimore, Md.)
|
August 1, 1996
Current therapy for Crigler-Najjar syndrome type 1: report of a world registry
C N van der Veere, M Sinaasappel, A F McDonagh, et al.
Journal of Inherited Metabolic Disease
|
May 31, 2012
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
S Koene, R J Rodenburg, M S van der Knaap, et al.
Page
of 12
Search research articles
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Showing results (101-110 of 112) with videos related to
Sort By:
Page
of 12
European Journal of Pediatrics
|
December 1, 1990
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies
G C Korenke, H A Bentlage, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2002
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry
K Gempel, S Kiechl, S Hofmann, et al.
Nature Communications
|
November 21, 2025
ER protein CLCC1 promotes nuclear envelope fusion in herpesviral and host processes
Bing Dai, Adrian W Sperl, Lucas Polack, et al.
Plos Pathogens
|
February 5, 2026
Isolation and characterization of broadly-neutralizing anti-HCMV-gB antibodies from human donors using a prefusion-stabilized HCMV gB variant
Maria K McClave, Yu-Hsin Wan, Ellen M White, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
August 3, 2021
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]
J A Mayr, R G Feichtinger, M T Achleitner, et al.
Neuromuscular Disorders : NMD
|
October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
W Sperl, P Jesina, J Zeman, et al.
Journal of Inherited Metabolic Disease
|
November 20, 2009
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome
E Quintana, J A Mayr, M T García Silva, et al.
Molecular Genetics and Metabolism Reports
|
May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
E Ciara, D Rokicki, P Halat, et al.
Hepatology (Baltimore, Md.)
|
August 1, 1996
Current therapy for Crigler-Najjar syndrome type 1: report of a world registry
C N van der Veere, M Sinaasappel, A F McDonagh, et al.
Journal of Inherited Metabolic Disease
|
May 31, 2012
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
S Koene, R J Rodenburg, M S van der Knaap, et al.
Page
of 12