LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS

Ph.D

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Main Author: LAUPHEIMER SIMONE
Other Authors: PAEDIATRICS
Format: Theses and Dissertations
Language:English
Published: 2018
Subjects:
Online Access:http://scholarbank.nus.edu.sg/handle/10635/138910
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Institution: National University of Singapore
Language: English
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spelling sg-nus-scholar.10635-1389102024-10-24T22:08:42Z LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS LAUPHEIMER SIMONE PAEDIATRICS Bruno Reversade CPD, Lymphedema,human patients, cpda, zebrafish, knockout Ph.D DOCTOR OF PHILOSOPHY (SOM) 2018-02-15T18:00:17Z 2018-02-15T18:00:17Z 2017-08-03 Thesis LAUPHEIMER SIMONE (2017-08-03). LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS. ScholarBank@NUS Repository. http://scholarbank.nus.edu.sg/handle/10635/138910 en
institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
language English
topic CPD, Lymphedema,human patients, cpda, zebrafish, knockout
spellingShingle CPD, Lymphedema,human patients, cpda, zebrafish, knockout
LAUPHEIMER SIMONE
LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
description Ph.D
author2 PAEDIATRICS
author_facet PAEDIATRICS
LAUPHEIMER SIMONE
format Theses and Dissertations
author LAUPHEIMER SIMONE
author_sort LAUPHEIMER SIMONE
title LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
title_short LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
title_full LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
title_fullStr LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
title_full_unstemmed LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
title_sort loss-of-function mutations in carboxypeptidase d cause a new syndrome with lymphedema and sensorineural hearing loss
publishDate 2018
url http://scholarbank.nus.edu.sg/handle/10635/138910
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