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Material Type: Article
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Diversity in Fibroblast Growth Factor Receptor 1 Regulation: Learning from the Investigation of Kallmann SyndromeJournal of neuroendocrinology, 2008-02, Vol.20 (2), p.141-163 [Peer Reviewed Journal]2008 INIST-CNRS ;ISSN: 0953-8194 ;EISSN: 1365-2826 ;DOI: 10.1111/j.1365-2826.2007.01627.x ;PMID: 18034870Full text available |
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Material Type: Article
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Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisAmerican journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.150-154 [Peer Reviewed Journal]Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34308 ;PMID: 22105932Full text available |
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Material Type: Article
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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 geneClinical genetics, 2006-02, Vol.69 (2), p.135-144 [Peer Reviewed Journal]2006 INIST-CNRS ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.2006.00559.x ;PMID: 16433694 ;CODEN: CLGNAYFull text available |
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Material Type: Article
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Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafnessEuropean journal of human genetics : EJHG, 2008, Vol.16 (1), p.89-96 [Peer Reviewed Journal]2008 INIST-CNRS ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201917Full text available |
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Material Type: Article
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Creating Inclusive Learning Environments: Difficulties and Opportunities Within the New Political EthosJournal of deaf studies and deaf education, 2009, Vol.14 (1), p.131-135 [Peer Reviewed Journal]Copyright © 2009 Oxford University Press ;The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2009 ;2009 INIST-CNRS ;The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org ;ISSN: 1081-4159 ;EISSN: 1465-7325 ;DOI: 10.1093/deafed/enm055 ;PMID: 17965452Full text available |