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Nature Genetics|December 25, 2007
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalingElen Griffith, Sarah Walker, Carol-Anne Martin, et al.Nature Genetics|March 2, 2011
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndromeLouise S Bicknell, Sarah Walker, Anna Klingseisen, et al.Plos Genetics|November 13, 2012
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeTomoo Ogi, Sarah Walker, Tom Stiff, et al.Cell Death & Disease|September 9, 2024
Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortageMartin D Burkhalter, Tom Stiff, Lars D Maerz, et al.Pageof 2