Férechté Encha‐Razavi
Hôpital Necker-Enfants Malades(FR)Assistance Publique – Hôpitaux de Paris(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Fetal and Pediatric Neurological Disorders, Hedgehog Signaling Pathway Studies, Genetic and Kidney Cyst Diseases, Prenatal Screening and Diagnostics, RNA Research and Splicing
Most-Cited Works
- → The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome(2007)489 cited
- → Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome(2007)281 cited
- → Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects(2010)261 cited
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development(2005)239 cited
- → The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome(2006)236 cited