Philip L. Beales
Great Ormond Street Hospital(GB)Institute of Child Health(IN)University College London(GB)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hedgehog Signaling Pathway Studies, Renal and related cancers, Epigenetics and DNA Methylation
Most-Cited Works
- → New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey(1999)964 cited
- → Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene(2004)763 cited
- → Bardet–Biedl syndrome(2012)729 cited
- → Ciliopathies: an expanding disease spectrum(2011)689 cited
- → Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome(2003)687 cited
- → Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder(2001)654 cited
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