R. Klootwijk

发表

Allele‐specific silencing of the dominant disease allele in sialuria by RNA interference

N. Caplen, W. Gahl, M. Huizing, 2008, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Introns are necessary for mRNA accumulation in Schizophyllum commune

J. Wessels, L. Lugones, J. Wessels, 1999, Molecular microbiology.

Analysis of the embryonic phenotype of Bent tail, a mouse model for X-linked neural tube defects

B. Franke, E. Mariman, H. J. Donkelaar, 2003, Anatomy and Embryology.

Spina bifida and genetic factors related to myo-inositol, glucose, and zinc.

B. Franke, R. Steegers-Theunissen, H. Straatman, 2004, Molecular genetics and metabolism.

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

B. Galeano, W. Gahl, M. Huizing, 2007, The Journal of clinical investigation.

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans

B. Franke, E. Mariman, B. Hamel, 2004, American journal of medical genetics. Part A.

A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.

B. Franke, E. Mariman, F. Hol, 2000, Human molecular genetics.

Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.

B. Franke, E. Mariman, R. Steegers-Theunissen, 2003, Birth defects research. Part A, Clinical and molecular teratology.

Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects

B. Franke, E. Mariman, B. Hamel, 2003, Journal of medical genetics.

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

W. Gahl, M. Dalakas, M. Huizing, 2005, Glycobiology.

Further characterization of the genetic defect of the Bent tail mouse, a mouse model for human neural tube defects.

B. Franke, E. Mariman, M. Schijvenaars, 2004, Birth defects research. Part A, Clinical and molecular teratology.