DOCUMENT RESOURCES FOR EVERYONE
Documents tagged
Documents Clinical variability of genetic isolates of Cohen syndrome

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

Documents Molecular genetics of Cohen syndrome

Untitled DocumentJuha Kolehmainen Academic Dissertation To be publicly discussed with the permission of the Faculty of Medicine, University of Helsinki, in auditorium 2,

Documents Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating...

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

Documents Cohen syndrome diagnosis using whole genome arrays

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

Documents Cohen Syndrome: Review of the Literature

Received 08/20/2018 Review began 09/02/2018 Review ended 09/13/2018 Published 09/18/2018 © Copyright 2018 Rodrigues et al. This is an open access article distributed

Documents Allelic Heterogeneity in the COH1 Gene Explains Clinical Variability in Cohen Syndrome

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

Documents Cohen Syndrome (CS)

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

Documents VPS13B (COH1) Gene Analysis in Cohen Syndrome

207 Perry Parkway | Gaithersburg, MD 20877 © 2021 GENEDX, INC. ALL RIGHTS RESERVED. VPS13B (COH1) Gene Analysis in Cohen Syndrome CLINICAL FEATURES Cohen syndrome (CS)

Documents Broader geographical spectrum of Cohen syndrome due to COH1 mutations

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,

Documents M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar...

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018): M. Michael Cohen, Jr.: Author, diagnostician, geneticist,