Koen Devriendt,Joris R. Vermeesch: search on Z-Library

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1

Left-ventricular non-compaction in a patient with monosomy 1p36

Bernard Thienpont, Luc Mertens, Gunnar Buyse, Joris R. Vermeesch, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

2

A microduplication of CBP in a patient with mental retardation and a congenital heart defect

Bernard Thienpont, Jeroen Breckpot, Maureen Holvoet, Joris R. Vermeesch, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 219 KB

english, 2007

3

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

Liesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, Koen Devriendt, Joris Vermeesch, Hilde Van Esch

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 189 KB

english, 2010

4

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris R. Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen

Journal:

Year:

2007

Language:

english

File:

PDF, 480 KB

english, 2007

5

What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

Thomy J. L. de Ravel, Koen Devriendt, Jean-Pierre Fryns, Joris R. Vermeesch

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 301 KB

english, 2007

6

Interstitial telomeric sequences at the junction site of a jumping translocation

Joris Robert Vermeesch, Paul Petit, Frank Speleman, Koen Devriendt, Jean-Pierre Fryns, P. Marynen

Journal:

Year:

1997

Language:

english

File:

PDF, 244 KB

english, 1997

7

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Backx, Liesbeth, Ceulemans, Berten, Vermeesch, Joris Robert, Devriendt, Koen, Van Esch, Hilde

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 241 KB

english, 2008

8

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

Castermans, Dries, Thienpont, Bernard, Volders, Karolien, Crepel, An, Vermeesch, Joris R, Schrander-Stumpel, Connie T, Van de Ven, Wim J M, Steyaert, Jean G, Creemers, John W M, Devriendt, Koen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

9

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism

Castermans, Dries, Vermeesch, Joris R, Fryns, Jean-Pierre, Steyaert, Jean G, Van de Ven, Wim J M, Creemers, John W M, Devriendt, Koen

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 328 KB

english, 2007

10

Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2

Aimé Lumaka, Christine Van Hole, Ingele Casteels, Els Ortibus, Veerle De Wolf, Joris R. Vermeesch, Tshilobo Lukusa, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

11

Cryptic translocation t(5;18) in familial mental retardation

Annick Vogels, Koen Devriendt, Joris R Vermeesch, Roeland Van Dael, Peter Marynen, Paul Dewaele, Jozef Hageman, Maureen Holvoet, Jean-Pierre Fryns

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 839 KB

english, 2000

12

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

Bernard Thienpont, Jeroen Breckpot, Joris R. Vermeesch, Marc Gewillig, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 332 KB

english, 2008

13

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1

Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, Jeroen Breckpot, Helen Fryssira, Sophia Kitsiou-Tzeli, Meropi Tzoufi, Joris R. Vermeesch, Maria Syrrou, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 166 KB

english, 2009

14

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

Thomy J.L. de Ravel, Liliane Ameye, Katleen Ballon, Martine Borghgraef, Joris R. Vermeesch, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 155 KB

english, 2009

15

Fetal surgery is a clinical reality

Jan A. Deprest, Roland Devlieger, Kasemsri Srisupundit, Veronika Beck, Inga Sandaite, Silvia Rusconi, Filip Claus, Gunnar Naulaers, Marc Van de Velde, Paul Brady, Koen Devriendt, Joris Vermeesch, Jaan

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2010

Language:

english

File:

PDF, 506 KB

english, 2010

16

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, C

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 577 KB

english, 2012

17

Anterior cervical hypertrichosis and mental retardation

Thienpont, Bernard, Vermeesch, Joris, Devriendt, Koen

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

18

Chromosomal phenotypes and submicroscopic abnormalities

Koen Devriendt,Joris R. Vermeesch

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

19

Maternal liver transplant: another cause of discordant fetal sex determination using cell free DNA.

Neofytou, Maria, Brison, Nathalie, Van den Bogaert, Kris, Dehaspe, Luc, Devriendt, Koen, Geerts, Anja, Vermeesch, Joris R.

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 409 KB

english, 2017

20

Transfer of aneuploid embryos following preimplantation genetic diagnosis: the added value of a haplotyping-based genome-wide approach

Melotte, Cindy, Dimitriadou, Eftychia, Debrock, Sophie, Devriendt, Koen, De Ravel, Thomy, Legius, Eric, Peeraer, Karen, Vermeesch, Joris Robert

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

21

Novel CASK mutations in cases with syndromic microcephaly

Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Van Esch, Hilde, Vermeesch, Joris R.

Journal:

Year:

2018

Language:

english

File:

PDF, 949 KB

english, 2018

22

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next generation sequencing

Kammoun, Molka, Souche, Erika, Brady, Paul, Ding, Jia, Cosemans, Nele, Gratacos, Eduard, Devriendt, Koen, Eixarch, Elisenda, Deprest, Jan, Vermeesch, Joris Robert

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 727 KB

english, 2018

23

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

Villela, Darine, Che, Huiwen, Van Ghelue, Marijke, Dehaspe, Luc, Brison, Nathalie, Van Den Bogaert, Kris, Devriendt, Koen, Lewi, Liesbeth, Bayindir, Baran, Vermeesch, Joris Robert

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019