Publications by authors named "Liesbeth Keldermans"

10Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

Challenges in molecular diagnosis of X-linked Intellectual disability.

Br Med Bull 2020 05;133(1):36-48

Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1093/bmb/ldz039DOI Listing
May 2020

Galactose Epimerase Deficiency: Expanding the Phenotype.

JIMD Rep 2017 1;37:19-25. Epub 2017 Mar 1.

Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico - Centro Hospitalar e Universitário de Coimbra, EPE, Avenida Afonso Romão, Coimbra, 3000-206, Portugal.

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http://dx.doi.org/10.1007/8904_2017_10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740041PMC
March 2017

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Dev Med Child Neurol 2016 10 13;58(10):1085-91. Epub 2016 May 13.

Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital - University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/dmcn.13141DOI Listing
October 2016

ALG8-CDG: novel patients and review of the literature.

Orphanet J Rare Dis 2015 Jun 12;10:73. Epub 2015 Jun 12.

Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1186/s13023-015-0289-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351PMC
June 2015

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.

Glycobiology 2009 Aug 18;19(8):910-7. Epub 2009 May 18.

Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1093/glycob/cwp067DOI Listing
August 2009

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

Mol Genet Metab 2007 Apr 16;90(4):408-13. Epub 2007 Feb 16.

Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2007.01.003DOI Listing
April 2007