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Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.Clinical Dysmorphology|March 14, 2007
Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletionGeorge A Tanteles, Katherine Yates, Kate Martin, et al.American Journal of Medical Genetics. Part A|August 7, 2013
Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variabilityGeorge A Tanteles, Abhijit Dixit, Sunil Dhar, et al.Journal of Food Protection|June 22, 2006
Role of the rpoS gene in the survival of Vibrio parahaemolyticus in artificial seawater and fish homogenatePradeep Vasudevan, Kumar VenkitanarayananArchives of Disease in Childhood|November 2, 2016
Ataxia telangiectasia: presentation and diagnostic delayRebecca Devaney, Sara Pasalodos, Mohnish Suri, et al.Clinical Dysmorphology|October 29, 2002
Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second caseMohnish Suri, C Garrett, R M Winter, et al.American Journal of Medical Genetics. Part A|November 20, 2023
Ophthalmic manifestations of Czech dysplasiaZack Soh, Howard Martin, Allan J Richards, et al.Clinical Dysmorphology|September 15, 2004
Congenital cardiac disease as a core feature of cranio-osteoarthropathySusan O'Connell, Mohnish Suri, Desmond Duff, et al.Journal of the Neurological Sciences|May 18, 2007
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesisAshok Raman, Xia Lin, Mohnish Suri, 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.Pageof 16