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1
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal]

2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAG

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2
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

The New England journal of medicine, 2013-05, Vol.368 (21), p.1971-1979 [Peer Reviewed Journal]

Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1213507 ;PMID: 23656586 ;CODEN: NEJMAG

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3
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

JNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1607-1616 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Nov 6, 2013 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djt277 ;PMID: 24136893 ;CODEN: JNCIEQ

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Shining a Light on Xeroderma Pigmentosum
Shining a Light on Xeroderma Pigmentosum
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Shining a Light on Xeroderma Pigmentosum

Journal of investigative dermatology, 2012-03, Vol.132 (3), p.785-796 [Peer Reviewed Journal]

2012 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2012 ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2011.426 ;PMID: 22217736 ;CODEN: JIDEAE

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5
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
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Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

American journal of human genetics, 2012-06, Vol.90 (6), p.1108-1115 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 8, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.05.006 ;PMID: 22658544 ;CODEN: AJHGAG

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6
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
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Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

American journal of human genetics, 2012-12, Vol.91 (6), p.987-997 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2014 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Dec 7, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.10.007 ;PMID: 23159250 ;CODEN: AJHGAG

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7
Developmental neuroplasticity after cochlear implantation
Developmental neuroplasticity after cochlear implantation
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Developmental neuroplasticity after cochlear implantation

Trends in neurosciences (Regular ed.), 2012-02, Vol.35 (2), p.111 [Peer Reviewed Journal]

Copyright © 2011. Published by Elsevier Ltd. ;EISSN: 1878-108X ;DOI: 10.1016/j.tins.2011.09.004 ;PMID: 22104561

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8
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

The New England journal of medicine, 2014-02, Vol.370 (6), p.533-542 [Peer Reviewed Journal]

Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2014 Massachusetts Medical Society. 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1206605 ;PMID: 24499211 ;CODEN: NEJMAG

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9
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
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Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

American journal of human genetics, 2012-02, Vol.90 (2), p.175-200 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 10, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.12.017 ;PMID: 22325359 ;CODEN: AJHGAG

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10
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

American journal of human genetics, 2011-05, Vol.88 (5), p.574-585 [Peer Reviewed Journal]

2011 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 13, 2011 ;2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.04.013 ;PMID: 21565291 ;CODEN: AJHGAG

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