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The New England Journal of Medicine
|
May 23, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiency
Thorsten Marquardt, Eva Morava, Stephan Rust
Gene
|
March 21, 2013
A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia
Muhidien Soufi, Stephan Rust, Michael Walter, et al.
Thrombosis and Haemostasis
|
March 10, 2006
Vascular risk factors in sudden hearing loss
Claudia Rudack, Claus Langer, Wolfgang Stoll, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2
Janine Reunert, Alijda van den Heuvel, Stephan Rust, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 2, 2002
The mutagenically separated polymerase chain reaction is a rapid and reliable method for genotyping of the tumour necrosis factor-alpha promoter polymorphism (-308 G/A)
Bernhard Schlüter, Michael Erren, Heiko Schotte, et al.
International Journal of Molecular Sciences
|
September 28, 2021
Uridine Treatment of the First Known Case of SLC25A36 Deficiency
Luisa Jasper, Pasquale Scarcia, Stephan Rust, et al.
Child Neurology Open
|
August 23, 2021
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
Christina M Quitmann, Stephan Rust, Janine Reunert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
August 19, 2017
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, et al.
Pediatric Nephrology (Berlin, Germany)
|
May 10, 2015
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers
Julien Heinrich Park, Martin Weissensteiner, Oliver Wagner, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2021
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy
Anja Penkl, Janine Reunert, Otfried M Debus, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 53) with videos related to
Sort By:
Page
of 6
The New England Journal of Medicine
|
May 23, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiency
Thorsten Marquardt, Eva Morava, Stephan Rust
Gene
|
March 21, 2013
A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia
Muhidien Soufi, Stephan Rust, Michael Walter, et al.
Thrombosis and Haemostasis
|
March 10, 2006
Vascular risk factors in sudden hearing loss
Claudia Rudack, Claus Langer, Wolfgang Stoll, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2
Janine Reunert, Alijda van den Heuvel, Stephan Rust, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 2, 2002
The mutagenically separated polymerase chain reaction is a rapid and reliable method for genotyping of the tumour necrosis factor-alpha promoter polymorphism (-308 G/A)
Bernhard Schlüter, Michael Erren, Heiko Schotte, et al.
International Journal of Molecular Sciences
|
September 28, 2021
Uridine Treatment of the First Known Case of SLC25A36 Deficiency
Luisa Jasper, Pasquale Scarcia, Stephan Rust, et al.
Child Neurology Open
|
August 23, 2021
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
Christina M Quitmann, Stephan Rust, Janine Reunert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
August 19, 2017
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, et al.
Pediatric Nephrology (Berlin, Germany)
|
May 10, 2015
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers
Julien Heinrich Park, Martin Weissensteiner, Oliver Wagner, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2021
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy
Anja Penkl, Janine Reunert, Otfried M Debus, et al.
Page
of 6