DOCUMENT RESOURCES FOR EVERYONE
Documents tagged
Cohen Syndrome: Review of the Literature
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

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

Cohen Syndrome (CS)
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

VPS13B (COH1) Gene Analysis in Cohen Syndrome
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)

Broader geographical spectrum of Cohen syndrome due to COH1 mutations
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,

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

A Cohen syndrome patient whose muscle-relaxant effect may have been prolonged during general anesthesia: a case report
Documents A Cohen syndrome patient whose muscle-relaxant effect may have been prolonged during general...

jdapm 22(2)-2022.4.1.hwpCase Report pISSN 2383-9309eISSN 2383-9317 J Dent Anesth Pain Med 2022;22(2):155-159https://doi.org/10.17245/jdapm.2022.22.2.155 A Cohen syndrome

Advances in Cohen syndrome diagnosis by MLPA and NGS
Documents Advances in Cohen syndrome diagnosis by MLPA and NGS

Cohen syndrome (MIM 216550) is a rare autosomic recessive disorder first described by Cohen et alPh.D in Medical Genetics Advances in Cohen syndrome Veronica Parri Academic

Cohen syndrome due to a novel VPS13B mutation in a Chinese family
Documents Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Cohen syndrome due to a novel VPS13B mutation in a Chinese familyContents lists avai journal-of-neurorestoratology Case Report Cohen syndrome due to a novel VPS13B mutation

A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea
Documents A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case.....

Mega-corpus callosum is a rare radiological find- ing. It is a characteristic finding of diseases such as Cohen syndrome, neurofibromatosis (NF), me- galencephaly-polymicrogyria-mega-corpus

Popular Categories
Relevant Tags