Clinical variability of genetic isolates of Cohen syndromeClin Genet 2011: 79: 501–506 Printed in Singapore. All rights reserved 2011 John Wiley & Sons A/S CLINICAL
Untitled DocumentJuha Kolehmainen Academic Dissertation To be publicly discussed with the permission of the Faculty of Medicine, University of Helsinki, in auditorium 2,
Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports W. Kim Seow MDSc, DDSc, PhD, FRACDS P.M. Bartold
Cohen syndrome diagnosis using whole genome arraysNuria Rivera-Brugues,1 Beate Albrecht,2 Dagmar Wieczorek,2 Heinrich Schmidt,3 Thomas Keller,4 Ina Gohring,5 Arif B Ekici,5
138 Report Allelic Heterogeneity in the COH1 Gene Explains Clinical Variability in Cohen Syndrome Hans Christian Hennies,1 Anita Rauch,4 Wenke Seifert,1 Christian Schumi,1
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by loss-of-function mutations in VPS13B. This is a transmembrane protein thought to function in vesicle-mediated
doi:10.1136/jmg.2003.014779 2004;41;87- J. Med. Genet. Ishihara, A Bodell, K Apse and C A Walsh G H Mochida, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia,
M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018): M. Michael Cohen, Jr.: Author, diagnostician, geneticist,