Lauréane Mittaz Crettol

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Andreas Zankl, Gail C. Jackson, Lauréane Mittaz Crettol et al. · European Journal of Human Genetics · 2006 · 33 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

E. C. M. Cranenburg, Karin Y. van Spaendonck‐Zwarts, Luisa Bonafé et al. · Journal of Thrombosis and Haemostasis · 2011 · 31 citations · Full text

Autoimmune Disease, Biochemistry, Matrix γ‐Carboxyglutamate Protein +6

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

Faysal Gök, Lauréane Mittaz Crettol, Yasemin Alanay et al. · European Journal of Pediatrics · 2009 · 29 citations

Novel Mutation, Mendelian Disorder, Radiographic Findings +9

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i><scp>HARS</scp></i> variant

Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen et al. · Annals of Clinical and Translational Neurology · 2019 · 19 citations · Full text