Jean-Marc Pinard

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

SUBEPENDYMAL GIANT-CELL ASTROCYTOMASIN PEDIATRIC TUBEROUS SCLEROSIS DISEASE

Sandrine de Ribaupierre, Georg Dorfmüller, Christine Bulteau et al. · Neurosurgery · 2007 · 132 citations

Medicine, Pediatrics, Surgery +14

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

Medicine, Genetics, Neurology +17

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

Anne‐Claude Tabet, Marion Pilorge, Richard Delorme et al. · European Journal of Human Genetics · 2012 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

S Lamer, Robert Carlier, Jean-Marc Pinard et al. · Radiology · 1998 · 47 citations

Medicine, Neurology, Neuroscience +16