Search - Inserm - Institut national de la santé et de la recherche médicale Access content directly

Filter your results

3 Results
authFullName_s : Céline Huber
Image document

Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Valérie Cormier-Daire , Céline Huber , Geneviève Baujat , R Caumes , Honorine Kayirangwa , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers inserm-00752961v1
Image document

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Johanne Dubail , Céline Huber , Sandrine Chantepie , Stephan Sonntag , Beyhan Tuysuz , et al.
Nature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Journal articles hal-01914333v1
Image document

Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia

Madeline Louise Reilly , Noor Ul Ain , Mari Muurinen , Alice Tata , Céline Huber , et al.
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Journal articles hal-03705297v1