R. Thoelen

发表

Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

J. Vermeesch, S. Tejpar, J. Fryns, 2005, Human mutation.

Direct fluorescent labelling of clones by DOP PCR

J. Vermeesch, H. Van Esch, R. Thoelen, 2008, Molecular Cytogenetics.

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

J. Vermeesch, J. Fryns, G. Matthijs, 2003, Journal of medical genetics.

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3′/4 synpolydactyly

W. V. D. Van de Ven, P. Debeer, R. Thoelen, 1998, Cytogenetic and Genome Research.

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma

R. Sciot, M. Debiec‐Rychter, Eline Beert, 2012, Genes, chromosomes & cancer.

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

K. Devriendt, J. Vermeesch, J. Fryns, 2003, European Journal of Human Genetics.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

R. Pfundt, A. Green, W. Reardon, 2011, European Journal of Human Genetics.

Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.

K. Devriendt, W. V. D. Van de Ven, J. Fryns, 1996, Cytogenetics and Cell Genetics.

Glypican 1 gene: good candidate for brachydactyly type E.

K. Devriendt, J. Fryns, M. Syrrou, 2002, American journal of medical genetics.

A familial complex chromosome translocation resulting in duplication of 6p25.

J. Vermeesch, J. Fryns, R. Thoelen, 2004, Annales de genetique.

MIP-based biomimetic sensor for the electronic detection of serotonin in human blood plasma

Marloes Peeters, Patrick Wagner, Anitha Ethirajan, 2012 .

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly

T. de Ravel, H. Van Esch, J. Fryns, 2006, Clinical genetics.

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

J. Vermeesch, J. Fryns, C. V. van Ravenswaaij-Arts, 2005, European journal of medical genetics.

Development of a label-free microfluidic impedimetric immunoassay for anti-SPAG16 antibody

L. Slaets, V. Somers, R. Thoelen, 2021, bioRxiv.

Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation.

H. Peeters, J. Vermeesch, J. Fryns, 2005, Genetic Counseling.

Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint

G. Fabry, F. Goodman, P. Debeer, 2000, European Journal of Human Genetics.