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	1.	Multiple phenotypes in phosphoglucomutase 1 deficiency. [electronic resource] by Marquardt, Thorsten Morava, Eva Rust, Stephan Producer: 20140529 In: The New England journal of medicine vol. 370 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia. [electronic resource] by Soufi, Muhidien Rust, Stephan Walter, Michael Schaefer, Juergen R Producer: 20130708 In: Gene vol. 521 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Vascular risk factors in sudden hearing loss. [electronic resource] by Rudack, Claudia Langer, Claus Stoll, Wolfgang Rust, Stephan Walter, Michael Producer: 20060427 In: Thrombosis and haemostasis vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	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). [electronic resource] by Schlüter, Bernhard Erren, Michael Schotte, Heiko Junker, Ralf Rust, Stephan Assmann, Gerd Producer: 20020724 In: Clinica chimica acta; international journal of clinical chemistry vol. 320 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	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. [electronic resource] by Schwade, Jan-Niclas Endmann, Matthias Hofmann, Thomas Rust, Stephan Sass, Jörn Oliver Rutsch, Frank Producer: 20180530 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. [electronic resource] by Park, Julien Heinrich Weissensteiner, Martin Wagner, Oliver Wada, Yoshinao Rust, Stephan Reunert, Janine Marquardt, Thorsten Producer: 20171026 In: Pediatric nephrology (Berlin, Germany) vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions. [electronic resource] by Park, Julien Heinrich Weissensteiner, Martin Wagner, Oliver Wada, Yoshinao Rust, Stephan Reunert, Janine Marquardt, Thorsten Producer: 20170918 In: Pediatric nephrology (Berlin, Germany) vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn. [electronic resource] by Reunert, Janine Wentzell, Rüdiger Walter, Michael Jakubiczka, Sibylle Zenker, Martin Brune, Thomas Rust, Stephan Marquardt, Thorsten Producer: 20121226 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation. [electronic resource] by Zühlsdorf, Andrea Park, Julien Heinrich Wada, Yoshinao Rust, Stephan Reunert, Janine DuChesne, Ingrid Grüneberg, Marianne Marquardt, Thorsten Producer: 20150908 In: Clinical biochemistry vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	3β,5α,6β-Cholestanetriol and 25-hydroxycholesterol accumulate in ATP-binding cassette transporter G1 (ABCG1)-deficiency. [electronic resource] by Engel, Thomas Fobker, Manfred Buchmann, Jana Kannenberg, Frank Rust, Stephan Nofer, Jerzy-Roch Schürmann, Annette Seedorf, Udo Producer: 20160510 In: Atherosclerosis vol. 235 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. [electronic resource] by Reunert, Janine Fobker, Manfred Kannenberg, Frank Du Chesne, Ingrid Plate, Maria Wellhausen, Judith Rust, Stephan Marquardt, Thorsten Producer: 20161213 In: EBioMedicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Characterization of cholesterol homeostasis in telomerase-immortalized Tangier disease fibroblasts reveals marked phenotype variability. [electronic resource] by Kannenberg, Frank Gorzelniak, Kerstin Jäger, Kathrin Fobker, Manfred Rust, Stephan Repa, Joyce Roth, Mike Björkhem, Ingemar Walter, Michael Producer: 20140221 In: The Journal of biological chemistry vol. 288 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I. [electronic resource] by Reunert, Janine Rust, Stephan Grüneberg, Marianne Seelhöfer, Anja Kurz, Daniel Ocker, Volker Weber, Dorothea Fingerhut, Ralph Marquardt, Thorsten Producer: 20200708 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Prevalence of cholesteryl ester storage disease. [electronic resource] by Muntoni, Sandro Wiebusch, Heiko Jansen-Rust, Marianne Rust, Stephan Seedorf, Udo Schulte, Helmut Berger, Klaus Funke, Harald Assmann, Gerd Producer: 20070807 In: Arteriosclerosis, thrombosis, and vascular biology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Effect of the interleukin-6 promoter polymorphism (-174 G/C) on the incidence and outcome of sepsis. [electronic resource] by Schlüter, Bernhard Raufhake, Carsten Erren, Michael Schotte, Heiko Kipp, Frank Rust, Stephan Van Aken, Hugo Assmann, Gerd Berendes, Elmar Producer: 20020405 In: Critical care medicine vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation. [electronic resource] by Park, Julien H Zühlsdorf, Andrea Wada, Yoshinao Roll, Claudia Rust, Stephan Du Chesne, Ingrid Grüneberg, Marianne Reunert, Janine Marquardt, Thorsten Producer: 20150827 In: Clinica chimica acta; international journal of clinical chemistry vol. 436 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test. [electronic resource] by Zühlsdorf, Andrea Said, Michael Seger, Christoph Park, Julien H Reunert, Janine Rust, Stephan Wada, Yoshinao Grüneberg, Marianne DuChesne, Ingrid Marquardt, Thorsten Producer: 20161213 In: Alcohol and alcoholism (Oxford, Oxfordshire) vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export. [electronic resource] by Engel, Thomas Lueken, Aloys Bode, Günther Hobohm, Uwe Lorkowski, Stefan Schlueter, Bernhard Rust, Stephan Cullen, Paul Pech, Michael Assmann, Gerd Seedorf, Udo Producer: 20040716 In: FEBS letters vol. 566 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). [electronic resource] by Nofer, Jerzy-Roch Herminghaus, Grazyna Brodde, Martin Morgenstern, Eberhard Rust, Stephan Engel, Thomas Seedorf, Udo Assmann, Gerd Bluethmann, Horst Kehrel, Beate E Producer: 20041025 In: The Journal of biological chemistry vol. 279 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy. [electronic resource] by Park, Julien H Hogrebe, Max Fobker, Manfred Brackmann, Renate Fiedler, Barbara Reunert, Janine Rust, Stephan Tsiakas, Konstantinos Santer, René Grüneberg, Marianne Marquardt, Thorsten Producer: 20180926 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 39 results.