Céline Huber
Hôpital Necker-Enfants Malades(FR)Inserm(FR)Université Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)Institut des Maladies Génétiques Imagine(FR)
Publications by Year
Research Areas
Connective tissue disorders research, Genetic and Kidney Cyst Diseases, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Ubiquitin and proteasome pathways, RNA modifications and cancer
Most-Cited Works
- → ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome(2004)278 cited
- → Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2016)259 cited
- → DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III(2009)255 cited
- → Ciliary disorder of the skeleton(2012)254 cited
- → Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome(2004)184 cited
- → Identification of mutations in CUL7 in 3-M syndrome(2005)172 cited