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Pediatrics
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April 6, 2011
Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I
Leonie van den Broek, Ad P C M Backx, Hans Coolen, et al.
Clinical Chemistry
|
January 29, 2011
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
Maïlys Guillard, Eva Morava, Floris L van Delft, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2022
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts
Rohit Budhraja, Mayank Saraswat, Diederik De Graef, et al.
Research Square
|
July 17, 2025
Deciphering the Glycoproteomic Landscape of Mood Disorders: Unveiling Molecular Association Between CDG and Depression Resilience
Tamas Kozicz, Rohit Budhraja, Graeme Preston, et al.
Molecular Genetics and Metabolism
|
November 14, 2020
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype
Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, et al.
Scientific Reports
|
June 19, 2021
Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice
Anouk C Tengeler, Tim L Emmerzaal, Bram Geenen, et al.
Mitochondrion
|
August 12, 2009
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Ellyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, et al.
American Journal of Medical Genetics. Part A
|
March 15, 2006
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
Eva Morava, Richard J Rodenburg, Frans Hol, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 18, 2013
A guide to diagnosis and treatment of Leigh syndrome
Fabian Baertling, Richard J Rodenburg, Jörg Schaper, et al.
Page
of 36
Search research articles
Search
Showing results (151-160 of 355) with videos related to
Sort By:
Page
of 36
Pediatrics
|
April 6, 2011
Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I
Leonie van den Broek, Ad P C M Backx, Hans Coolen, et al.
Clinical Chemistry
|
January 29, 2011
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
Maïlys Guillard, Eva Morava, Floris L van Delft, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2022
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts
Rohit Budhraja, Mayank Saraswat, Diederik De Graef, et al.
Research Square
|
July 17, 2025
Deciphering the Glycoproteomic Landscape of Mood Disorders: Unveiling Molecular Association Between CDG and Depression Resilience
Tamas Kozicz, Rohit Budhraja, Graeme Preston, et al.
Molecular Genetics and Metabolism
|
November 14, 2020
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype
Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, et al.
Scientific Reports
|
June 19, 2021
Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice
Anouk C Tengeler, Tim L Emmerzaal, Bram Geenen, et al.
Mitochondrion
|
August 12, 2009
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Ellyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, et al.
American Journal of Medical Genetics. Part A
|
March 15, 2006
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
Eva Morava, Richard J Rodenburg, Frans Hol, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 18, 2013
A guide to diagnosis and treatment of Leigh syndrome
Fabian Baertling, Richard J Rodenburg, Jörg Schaper, et al.
Page
of 36