S. Hadj‐Rabia

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

Slaheddine Marrakchi, Philippe Guigue, Blair R. Renshaw et al. · New England Journal of Medicine · 2011 · 979 citations · Full text

Medicine, Dermatology, Immunology +14

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

S. Hadj‐Rabia, Lekbir Baala, P. Vabres et al. · Gastroenterology · 2004 · 413 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +13

Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations

Christine Bodemer, Olivier Hermine, Fabienne Palmérini et al. · Journal of Investigative Dermatology · 2009 · 389 citations

Life Sciences, Genetics, Pediatrics +12

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 343 citations · Full text

Medicine, Genetics, Pediatrics +13