Aurelien Trimouille

Aurelien Trimouille

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Aurelien Trimouille

Aurelien Trimouille

Publications by authors named "Aurelien Trimouille"

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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Molecular characterization of a series of 990 index patients with albinism.

Pigment Cell Melanoma Res 2018 07 14;31(4):466-474. Epub 2018 Feb 14.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12688DOI Listing
July 2018

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Clin Neurol Neurosurg 2018 03 30;166:1-3. Epub 2018 Jan 30.

CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.clineuro.2018.01.013DOI Listing
March 2018