Publications by authors named "Liesbeth Backx"

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx

Am J Hum Genet· May 2019

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Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.
Joana Barbosa Melo, Liesbeth Backx, Joris R Vermeesch, Heloisa G Santos, Ana C Sousa

J Appl Genet· May 2011

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FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Michella Ghassibe-Sabbagh, Laurence Desmyter, Tobias Langenberg, Filip Claes, Odile Boute, Liesbeth Backx

Am J Hum Genet· February 2011

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PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.
Liesbeth Backx, Joris Vermeesch, Elly Pijkels, Thomy de Ravel, Eve Seuntjens

Eur J Med Genet· January 2011

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SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.
Dries Castermans, Karolien Volders, An Crepel, Liesbeth Backx, Rita De Vos

Hum Mol Genet· April 2010

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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

Am J Med Genet A· February 2010

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Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.
Hilde Van Esch, Liesbeth Backx, Elly Pijkels, Jean-Pierre Fryns

Eur J Med Genet· September 2009

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Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.
Isabel M Carreira, Joana B Melo, Carlos Rodrigues, Liesbeth Backx, Joris Vermeesch

Mol Cytogenet· August 2009

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
Liesbeth Backx, Berten Ceulemans, Joris Robert Vermeesch, Koen Devriendt, Hilde Van Esch

Eur J Hum Genet· March 2009

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Direct fluorescent labelling of clones by DOP PCR.
Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch, Joris R Vermeesch

Mol Cytogenet· March 2008

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