A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

Por Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe
Publicado no J Pediatr Genet (2016)

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

Por Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre
Publicado no Eur J Hum Genet (2016)

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Por Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C., Harewood, Louise, Kosmicki, Jack A., Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M., Alfaiz, Ali Abdullah, van Haelst, Mieke M., Andrieux, Joris, Gusella, James F., Daly, Mark J., Beckmann, Jacques S., Jacquemont, Sébastien, Talkowski, Michael E., Katsanis, Nicholas, Reymond, Alexandre
Publicado no Am J Hum Genet (2015)