Nicole Philip
Inserm(FR)Aix-Marseille Université(FR)Assistance Publique Hôpitaux de Marseille(FR)Hôpital de la Timone(FR)
Publications by Year
Research Areas
Congenital heart defects research, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital Heart Disease Studies, Genomics and Rare Diseases
Most-Cited Works
- → 22q11.2 deletion syndrome(2015)2,218 cited
- → Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome(2011)598 cited
- → Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma(2004)349 cited
- → Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein(2003)257 cited
- → Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases(2014)172 cited
- → Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome(2006)170 cited
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