Publications by authors named "Caroline Thuillier"

10Publications

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Eur J Med Genet 2020 Sep 25;63(12):104072. Epub 2020 Sep 25.

CHU Lille, Clinique de Génétique, Guy Fontaine, F-59000, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104072DOI Listing
September 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Jul 20;22(7):1235-1246. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-020-0787-4DOI Listing
July 2020

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Eur J Hum Genet 2018 10 13;26(10):1497-1501. Epub 2018 Jun 13.

Service de Génétique Clinique Guy Fontaine et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.

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http://dx.doi.org/10.1038/s41431-018-0165-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138634PMC
October 2018