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European Journal of Human Genetics : EJHG
|
October 3, 2023
A framework for evaluating long-term impact of newborn screening
Shona Kalkman, Ron A Wevers, Frits A Wijburg, et al.
Neuropediatrics
|
May 16, 2017
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sílvia Sequeira, Márcia Rodrigues, Sandra Jacinto, et al.
European Journal of Human Genetics : EJHG
|
November 28, 2023
Correction: A framework for evaluating long-term impact of newborn screening
Shona Kalkman, Ron A Wevers, Frits A Wijburg, et al.
Plos One
|
August 11, 2012
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice
Wilhelmina G Leen, Michèl A Willemsen, Ron A Wevers, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
August 27, 2015
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
Monique van Scherpenzeel, Gerry Steenbergen, Eva Morava, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 27, 2016
Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF
Joannes F M Jacobs, Ron A Wevers, Dirk J Lefeber, et al.
Journal of Child Neurology
|
January 27, 2009
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions
Ewa Jamroz, Dariusz Adamek, Justyna Paprocka, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Metabolic cutis laxa syndromes
Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2024
A Dutch translational knowledge agenda for inherited metabolic diseases
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, et al.
Pediatric Neurology
|
May 31, 2017
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis
Bianca M L Stelten, Marjo S van der Knaap, Ron A Wevers, et al.
Page
of 27
Search research articles
Search
Showing results (11-20 of 266) with videos related to
Sort By:
Page
of 27
European Journal of Human Genetics : EJHG
|
October 3, 2023
A framework for evaluating long-term impact of newborn screening
Shona Kalkman, Ron A Wevers, Frits A Wijburg, et al.
Neuropediatrics
|
May 16, 2017
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sílvia Sequeira, Márcia Rodrigues, Sandra Jacinto, et al.
European Journal of Human Genetics : EJHG
|
November 28, 2023
Correction: A framework for evaluating long-term impact of newborn screening
Shona Kalkman, Ron A Wevers, Frits A Wijburg, et al.
Plos One
|
August 11, 2012
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice
Wilhelmina G Leen, Michèl A Willemsen, Ron A Wevers, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
August 27, 2015
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
Monique van Scherpenzeel, Gerry Steenbergen, Eva Morava, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 27, 2016
Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF
Joannes F M Jacobs, Ron A Wevers, Dirk J Lefeber, et al.
Journal of Child Neurology
|
January 27, 2009
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions
Ewa Jamroz, Dariusz Adamek, Justyna Paprocka, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Metabolic cutis laxa syndromes
Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2024
A Dutch translational knowledge agenda for inherited metabolic diseases
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, et al.
Pediatric Neurology
|
May 31, 2017
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis
Bianca M L Stelten, Marjo S van der Knaap, Ron A Wevers, et al.
Page
of 27