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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.198-207 [Peer Reviewed Journal]

Copyright Nature Publishing Group Feb 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.91 ;PMID: 25966638

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2
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1783-1791 [Peer Reviewed Journal]

Copyright Nature Publishing Group Dec 2016 ;Copyright © 2016 Macmillan Publishers Limited, part of Springer Nature. 2016 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2016.91 ;PMID: 27406248

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3
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.302-308 [Peer Reviewed Journal]

2005 INIST-CNRS ;Copyright Nature Publishing Group Mar 2005 ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201269 ;PMID: 15657609

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