Thomas Courtin

Boris Keren 5 collaborations

None None 3 collaborations

Magalie Barth 2 collaborations

Paranchai Boonsawat 2 collaborations

Boudewijn Gunning 2 collaborations

Alban Ziegler 2 collaborations

Anita Rauch 2 collaborations

Gaetan Lesca 2 collaborations

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Pankaj B Agrawal 2 collaborations

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Alfredo Brusco 2 collaborations

Alexandra Afenjar 2 collaborations

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Delphine Heron 2 collaborations

Caroline Nava 2 collaborations

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Affiliations

Publications (11)

Influence of fat crystallization in W/O emulsions on the water droplet size determination by NMR diffusometry.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

LSM7 variants involving key amino-acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways.

Detection of

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Réseau de co-auteurs