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Journal of Inherited Metabolic Disease
|
April 16, 2026
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria
Corentin Gondrand, Anna T Reischl-Hajiabadi, Estelle Bonedeau, et al.
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
Medicine
|
June 23, 2021
Next-generation sequencing diagnostics of bacteremia in pediatric sepsis
Thomas Schmoch, Jens H Westhoff, Sebastian O Decker, et al.
Pediatrics
|
March 18, 2025
Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening
Ulrike Mütze, Julia Stengel, Florian Gleich, et al.
Pediatric Transplantation
|
October 2, 2009
A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience
Guido Engelmann, Jan Schmidt, Juergen Weitz, et al.
Gene
|
January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Scientific Reports
|
July 21, 2020
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Roland Posset, Sven F Garbade, Florian Gleich, et al.
Annals of Neurology
|
August 19, 2007
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Marcel M Verbeek, Gerry C H Steenbergen-Spanjers, Michèl A A P Willemsen, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
July 30, 2013
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
Olaf Sommerburg, Veronika Krulisova, Jutta Hammermann, et al.
The Biochemical Journal
|
May 12, 2006
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins
Marina A Schwab, Sven W Sauer, Jürgen G Okun, et al.
Page
of 39
Search research articles
Search
Showing results (271-280 of 381) with videos related to
Sort By:
Page
of 39
Journal of Inherited Metabolic Disease
|
April 16, 2026
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria
Corentin Gondrand, Anna T Reischl-Hajiabadi, Estelle Bonedeau, et al.
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
Medicine
|
June 23, 2021
Next-generation sequencing diagnostics of bacteremia in pediatric sepsis
Thomas Schmoch, Jens H Westhoff, Sebastian O Decker, et al.
Pediatrics
|
March 18, 2025
Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening
Ulrike Mütze, Julia Stengel, Florian Gleich, et al.
Pediatric Transplantation
|
October 2, 2009
A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience
Guido Engelmann, Jan Schmidt, Juergen Weitz, et al.
Gene
|
January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Scientific Reports
|
July 21, 2020
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Roland Posset, Sven F Garbade, Florian Gleich, et al.
Annals of Neurology
|
August 19, 2007
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Marcel M Verbeek, Gerry C H Steenbergen-Spanjers, Michèl A A P Willemsen, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
July 30, 2013
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
Olaf Sommerburg, Veronika Krulisova, Jutta Hammermann, et al.
The Biochemical Journal
|
May 12, 2006
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins
Marina A Schwab, Sven W Sauer, Jürgen G Okun, et al.
Page
of 39