Philippe Duquesnoy

Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes

Isabelle Jéru, Philippe Duquesnoy, Teresa Fernandes‐Alnemri et al. · Proceedings of the National Academy of Sciences · 2008 · 365 citations · Full text

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck et al. · Nature Genetics · 2010 · 339 citations · Full text

Normal Ciliary Motility, Molecular Biology, Cytoskeleton +4

Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

Serge Amselem, Philippe Duquesnoy, Olivier Attree et al. · New England Journal of Medicine · 1989 · 316 citations

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Kalotina Machinis, Jacques Pantel, Irène Netchine et al. · The American Journal of Human Genetics · 2001 · 273 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +8

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

Jacques Pantel, Kalotina Machinis, Marie‐Laure Sobrier et al. · Journal of Biological Chemistry · 2000 · 200 citations · Full text