Publications by authors named "Julie Litzler"

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High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Justine Lerat, Crystel Bonnet, François Cartault, Natalie Loundon, Marie-Line Jacquemont, Julie Litzler

Clin Genet· January 2019

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Sophie Thomas, Kevin J Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Julie Litzler

Hum Mutat· January 2014

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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Audrey Putoux, Sheela Nampoothiri, Nicole Laurent, Valérie Cormier-Daire, Philip L Beales, Julie Litzler

J Med Genet· November 2012

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