Nicole Philip

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt et al. · The Journal of Pediatrics · 2011 · 601 citations · Full text

Medicine, Cardiology, Genetics +15

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey et al. · The American Journal of Human Genetics · 2004 · 349 citations

Medicine, Genetics, Molecular Genetics +11

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Lesley McGregor, Ville Makela, S. M. Darling et al. · Nature Genetics · 2003 · 258 citations

Life Sciences, Genetics, Molecular Genetics +14

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 174 citations · Full text

Medicine, Neurology, Neuropathology +2

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Grégory Raux, Emilie Bumsel, B. Hecketsweiler et al. · Human Molecular Genetics · 2006 · 171 citations

Life Sciences, Genetics, Molecular Genetics +15