Showing 1–5 of 5 results
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Research | | Open
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Research | | Open
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
- Sakshi Singh
- , Aditi Gupta
- , Michael Zech
- , Ashley N. Sigafoos
- , Karl J. Clark
- , Yasemin Dincer
- , Matias Wagner
- , Jennifer B. Humberson
- , Sarah Green
- , Koen van Gassen
- , Tracy Brandt
- , Rhonda E. Schnur
- , Francisca Millan
- , Yue Si
- , Volker Mall
- , Juliane Winkelmann
- , Ralitza H. Gavrilova
- , Eric W. Klee
- , Kendra Engleman
- , Nicole P. Safina
- , Rachel Slaugh
- , Emily M. Bryant
- , Wen-Hann Tan
- , Jorge Granadillo
- , Sunita N. Misra
- , G. Bradley Schaefer
- , Shelley Towner
- , Eva H. Brilstra
- & Bobby P. C. Koeleman
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Research | | Open
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Research | | Open
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Research |
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
- Thomas Besnard
- , Natacha Sloboda
- , Alice Goldenberg
- , Sébastien Küry
- , Benjamin Cogné
- , Flora Breheret
- , Eva Trochu
- , Solène Conrad
- , Marie Vincent
- , Wallid Deb
- , Xavier Balguerie
- , Sébastien Barbarot
- , Geneviève Baujat
- , Tawfeg Ben-Omran
- , Anne-Claire Bursztejn
- , Virginie Carmignac
- , Alexandre N. Datta
- , Aline Delignières
- , Laurence Faivre
- , Betty Gardie
- , Jean-Louis Guéant
- , Paul Kuentz
- , Marion Lenglet
- , Marie-Cécile Nassogne
- , Vincent Ramaekers
- , Rhonda E. Schnur
- , Yue Si
- , Erin Torti
- , Julien Thevenon
- , Pierre Vabres
- , Lionel Van Maldergem
- , Dorothea Wand
- , Arnaud Wiedemann
- , Bertrand Cariou
- , Richard Redon
- , Antonin Lamazière
- , Stéphane Bézieau
- , Francois Feillet
- & Bertrand Isidor
