Silvy J. M. Dooren

发表

DNA supercoiling depends on the phosphorylation potential in Escherichia coli

H. Westerhoff, J. Snoep, P. R. Jensen, 1996, Molecular microbiology.

RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

G. Pals, Mark A. Wiel, Silvy J. M. Dooren, 2014, Human mutation.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

R. Ramos, I. Rivera, H. Blom, 2014, Journal of Inherited Metabolic Disease.

Bacteroides fragilis Growth of Abscess Formation and Heme-Dependent Autotransporter Contributes to Synergistic Hemoglobin Protease Escherichia coli

C. Dozois, B. Oudega, Silvy J. M. Dooren, 2001 .

X-linked creatine transporter defect: An overview

C. Schwartz, T. Degrauw, K. Cecil, 2003, Journal of Inherited Metabolic Disease.

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

William S. Ball, W. Ball, T. Degrauw, 2001, American journal of human genetics.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

H. Waterham, S. Natesan, Silvy J. M. Dooren, 2020, Molecular genetics and metabolism.

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.

G. Sinclair, Silvy J. M. Dooren, C. Jakobs, 2012, Molecular genetics and metabolism.

E. Schaftingen, M. S. van der Knaap, E. Van Schaftingen, 2019 .