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Pediatric Nephrology (Berlin, Germany)
|
May 8, 2015
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions
Julien Heinrich Park, Martin Weissensteiner, Oliver Wagner, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2012
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn
Janine Reunert, Rüdiger Wentzell, Michael Walter, et al.
Clinical Biochemistry
|
October 12, 2014
Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation
Andrea Zühlsdorf, Julien Heinrich Park, Yoshinao Wada, et al.
Ebiomedicine
|
March 17, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening
Janine Reunert, Manfred Fobker, Frank Kannenberg, et al.
Atherosclerosis
|
May 17, 2014
3β,5α,6β-Cholestanetriol and 25-hydroxycholesterol accumulate in ATP-binding cassette transporter G1 (ABCG1)-deficiency
Thomas Engel, Manfred Fobker, Jana Buchmann, et al.
JIMD Reports
|
July 14, 2021
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)
Lisa Kemme, Marianne Grüneberg, Janine Reunert, et al.
The Journal of Biological Chemistry
|
November 8, 2013
Characterization of cholesterol homeostasis in telomerase-immortalized Tangier disease fibroblasts reveals marked phenotype variability
Frank Kannenberg, Kerstin Gorzelniak, Kathrin Jäger, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2019
Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I
Janine Reunert, Stephan Rust, Marianne Grüneberg, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology
|
July 20, 2007
Prevalence of cholesteryl ester storage disease
Sandro Muntoni, Heiko Wiebusch, Marianne Jansen-Rust, et al.
Journal of Neurogenetics
|
July 8, 2024
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
Annabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, et al.
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Search research articles
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Showing results (11-20 of 53) with videos related to
Sort By:
Page
of 6
Pediatric Nephrology (Berlin, Germany)
|
May 8, 2015
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions
Julien Heinrich Park, Martin Weissensteiner, Oliver Wagner, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2012
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn
Janine Reunert, Rüdiger Wentzell, Michael Walter, et al.
Clinical Biochemistry
|
October 12, 2014
Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation
Andrea Zühlsdorf, Julien Heinrich Park, Yoshinao Wada, et al.
Ebiomedicine
|
March 17, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening
Janine Reunert, Manfred Fobker, Frank Kannenberg, et al.
Atherosclerosis
|
May 17, 2014
3β,5α,6β-Cholestanetriol and 25-hydroxycholesterol accumulate in ATP-binding cassette transporter G1 (ABCG1)-deficiency
Thomas Engel, Manfred Fobker, Jana Buchmann, et al.
JIMD Reports
|
July 14, 2021
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)
Lisa Kemme, Marianne Grüneberg, Janine Reunert, et al.
The Journal of Biological Chemistry
|
November 8, 2013
Characterization of cholesterol homeostasis in telomerase-immortalized Tangier disease fibroblasts reveals marked phenotype variability
Frank Kannenberg, Kerstin Gorzelniak, Kathrin Jäger, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2019
Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I
Janine Reunert, Stephan Rust, Marianne Grüneberg, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology
|
July 20, 2007
Prevalence of cholesteryl ester storage disease
Sandro Muntoni, Heiko Wiebusch, Marianne Jansen-Rust, et al.
Journal of Neurogenetics
|
July 8, 2024
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
Annabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, et al.
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of 6