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Journal of Inherited Metabolic Disease
|
October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A M Morris, Viktor Kožich, Saikat Santra, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2022
Postauthorization safety study of betaine anhydrous
Ulrike Mütze, Florian Gleich, Sven F Garbade, et al.
Brain : a Journal of Neurology
|
October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Monika Oláhová, Steven A Hardy, Julie Hall, et al.
Nature Genetics
|
March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, et al.
JAMA
|
July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
Robert W Taylor, Angela Pyle, Helen Griffin, et al.
Scientific Data
|
March 25, 2026
A whole rock geochemical dataset for magmatic rocks drilled on the mid-Norwegian margin
C Tegner, P Guo, S Chatterjee, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
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of 13
Search research articles
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Showing results (121-130 of 127) with videos related to
Sort By:
Page
of 13
You have reached the last page of results.
This site can display upto 127 results.
Journal of Inherited Metabolic Disease
|
October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A M Morris, Viktor Kožich, Saikat Santra, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2022
Postauthorization safety study of betaine anhydrous
Ulrike Mütze, Florian Gleich, Sven F Garbade, et al.
Brain : a Journal of Neurology
|
October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Monika Oláhová, Steven A Hardy, Julie Hall, et al.
Nature Genetics
|
March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, et al.
JAMA
|
July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
Robert W Taylor, Angela Pyle, Helen Griffin, et al.
Scientific Data
|
March 25, 2026
A whole rock geochemical dataset for magmatic rocks drilled on the mid-Norwegian margin
C Tegner, P Guo, S Chatterjee, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Page
of 13