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Frontiers in Immunology
|
September 8, 2025
Glycoproteomics analysis of complement factor H and its complement-regulatory function during <i>Streptococcus pneumoniae</i>-associated hemolytic uremic syndrome
Laura M Baas, Kioa L Wijnsma, Fokje Zijlstra, et al.
Nature Genetics
|
December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Nature Communications
|
October 29, 2021
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Peter T A Linders, Eveline C F Gerretsen, Angel Ashikov, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
Eva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
Journal of Inherited Metabolic Disease
|
December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubova, Rita Barone, Stephanie Grunewald, et al.
The Journal of Pediatrics
|
May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Human Mutation
|
September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
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Search research articles
Search
Showing results (61-70 of 72) with videos related to
Sort By:
Page
of 8
Frontiers in Immunology
|
September 8, 2025
Glycoproteomics analysis of complement factor H and its complement-regulatory function during <i>Streptococcus pneumoniae</i>-associated hemolytic uremic syndrome
Laura M Baas, Kioa L Wijnsma, Fokje Zijlstra, et al.
Nature Genetics
|
December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Nature Communications
|
October 29, 2021
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Peter T A Linders, Eveline C F Gerretsen, Angel Ashikov, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
Eva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
Journal of Inherited Metabolic Disease
|
December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubova, Rita Barone, Stephanie Grunewald, et al.
The Journal of Pediatrics
|
May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Human Mutation
|
September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Page
of 8