Rebecca Willaert

Rebecca Willaert

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Rebecca Willaert

Rebecca Willaert

Publications by authors named "Rebecca Willaert"

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

CD14 promoter polymorphisms in atopic families: implications for modulated allergen-specific immunoglobulin E and G1 responses.

Int Arch Allergy Immunol 2006 27;139(3):217-24. Epub 2006 Jan 27.

The Asthma and Allergy Program, Division of Pulmonary, Allergy and Critical Care Medicine, University of Minnesota Medical School, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1159/000091167DOI Listing
March 2006

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

Am J Hum Genet 2003 Sep 22;73(3):638-45. Epub 2003 Jul 22.

Department of Genetics, University of Minnesota, Minneapolis, MN, 55455, USA.

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http://dx.doi.org/10.1086/377569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180688PMC
September 2003