Nicolas Chassaing
Affiliations: | 2009-2013 | Genetics | Université Toulouse III - Paul Sabatier, Toulouse, Occitanie, France |
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Parents
Sign in to add mentorHeather C. Etchevers | grad student | 2009-2013 | Université Toulouse III - Paul Sabatier | |
(Co-advisor with Professor Patrick Calvas) |
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Publications
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Husson T, Lecoquierre F, Nicolas G, et al. (2023) Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics : Ejhg |
Santorini M, Chesneau B, Koskas-Boublil P, et al. (2023) First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. American Journal of Medical Genetics. Part A |
Bouasker S, Patel N, Greenlees R, et al. (2022) Bi-allelic variants in disrupt the development of multiple organs in humans. Journal of Medical Genetics |
Chesneau B, Aubert-Mucca M, Fremont F, et al. (2022) First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical Genetics |
Kalantari S, Carlston C, Alsaleh N, et al. (2021) Expanding the KIF4A-associated phenotype. American Journal of Medical Genetics. Part A |
Aubert-Mucca M, Pernin-Grandjean J, Marchasson S, et al. (2020) Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma. European Journal of Human Genetics : Ejhg |
Dubucs C, Chassaing N, Sergi C, et al. (2020) Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations |
Bayat A, Knaus A, Pendziwiat M, et al. (2020) Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia |
Chesneau B, Edouard T, Dulac Y, et al. (2020) Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Molecular Genetics & Genomic Medicine. e1132 |
Zazo-Seco C, Plaisancié J, Bitoun P, et al. (2020) Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. Journal of Human Genetics |