N. Philip

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome

Marie‐Geneviève Mattéi, N. Philip, E. Passage et al. · Human Genetics · 1985 · 313 citations

Life Sciences, Genetics, Molecular Genetics +12

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, Corinne Stoetzel, M. C. Vincent et al. · Human Genetics · 2010 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Comparison between direct clinical and digital photogrammetric measurements in patients with 22q11 microdeletion

Laurent Guyot, Myriam Dubuc, Olivier Richard et al. · International Journal of Oral and Maxillofacial Surgery · 2003 · 130 citations

Engineering, Biomedical Engineering, Digital Imaging +5