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21
An SCN9A channelopathy causes congenital inability to experience pain
An SCN9A channelopathy causes congenital inability to experience pain
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An SCN9A channelopathy causes congenital inability to experience pain

Nature, 2006-12, Vol.444 (7121), p.894-898 [Peer Reviewed Journal]

2007 INIST-CNRS ;COPYRIGHT 2006 Nature Publishing Group ;COPYRIGHT 2006 Nature Publishing Group ;Copyright Nature Publishing Group Dec 14, 2006 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature05413 ;PMID: 17167479 ;CODEN: NATUAS

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22
Rare Variants in TP53 and Susceptibility to Neuroblastoma
Rare Variants in TP53 and Susceptibility to Neuroblastoma
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Rare Variants in TP53 and Susceptibility to Neuroblastoma

JNCI : Journal of the National Cancer Institute, 2014-04, Vol.106 (4), p.dju047-dju047 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Apr 2014 ;The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com. 2014 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/dju047 ;PMID: 24634504 ;CODEN: JNCIEQ

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23
Abnormal Brain Development in Newborns with Congenital Heart Disease
Abnormal Brain Development in Newborns with Congenital Heart Disease
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Abnormal Brain Development in Newborns with Congenital Heart Disease

The New England journal of medicine, 2007-11, Vol.357 (19), p.1928-1938 [Peer Reviewed Journal]

Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;2007 INIST-CNRS ;Copyright 2007 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa067393 ;PMID: 17989385 ;CODEN: NEJMAG

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24
Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment
Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment
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Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

Blood reviews, 2010-11, Vol.24 (6), p.203 [Peer Reviewed Journal]

Copyright © 2010 Elsevier Ltd. All rights reserved. ;EISSN: 1532-1681 ;DOI: 10.1016/j.blre.2010.07.001 ;PMID: 20870325

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25
Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection
Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection
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Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection

JAMA : the journal of the American Medical Association, 2010-04, Vol.303 (14), p.1375 [Peer Reviewed Journal]

EISSN: 1538-3598 ;DOI: 10.1001/jama.2010.423 ;PMID: 20388893

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26
New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk
New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk
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New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk

British journal of dermatology (1951), 2014-10, Vol.171 (4), p.861-867 [Peer Reviewed Journal]

The Authors. published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;2015 INIST-CNRS ;The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;Copyright © 2014 British Association of Dermatologists ;The Authors. published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. 2014 ;ISSN: 0007-0963 ;EISSN: 1365-2133 ;DOI: 10.1111/bjd.13203 ;PMID: 24976116 ;CODEN: BJDEAZ

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27
Patent Ductus Arteriosus of the Preterm Infant
Patent Ductus Arteriosus of the Preterm Infant
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Patent Ductus Arteriosus of the Preterm Infant

Pediatrics (Evanston), 2010-05, Vol.125 (5), p.1020-1030 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright American Academy of Pediatrics May 2010 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2009-3506 ;PMID: 20421261 ;CODEN: PEDIAU

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28
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair

Journal of medical genetics, 2011-03, Vol.48 (3), p.168-176 [Peer Reviewed Journal]

2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;2015 INIST-CNRS ;Copyright: 2011 (c) 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2010.083022 ;PMID: 21097776 ;CODEN: JMDGAE

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29
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

Nature reviews. Genetics, 2009-11, Vol.10 (11), p.756-768 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2663 ;PMID: 19809470

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30
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
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Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Nature genetics, 2009-04, Vol.41 (4), p.473-477 [Peer Reviewed Journal]

2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2009 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.333 ;PMID: 19270707 ;CODEN: NGENEC

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31
Structure and mechanism of human DNA polymerase η
Structure and mechanism of human DNA polymerase η
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Structure and mechanism of human DNA polymerase η

Nature (London), 2010-06, Vol.465 (7301), p.1044-1048 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09196 ;PMID: 20577208 ;CODEN: NATUAS

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32
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Nature genetics, 2012-02, Vol.44 (2), p.140-147 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.1056 ;PMID: 22246504 ;CODEN: NGENEC

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33
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

American journal of human genetics, 2012-09, Vol.91 (3), p.527-532 [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 Sep 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.2012.07.006 ;PMID: 22901948 ;CODEN: AJHGAG

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34
Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease
Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease
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Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease

Pediatrics (Evanston), 2012, Vol.129 (1), p.190-192 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright American Academy of Pediatrics Jan 2012 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2011-3211 ;PMID: 22201143 ;CODEN: PEDIAU

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35
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

American journal of human genetics, 2009-06, Vol.84 (6), p.780-791 [Peer Reviewed Journal]

2009 The American Society of Human Genetics ;2009 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jun 12, 2009 ;2009 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2009 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2009.05.005 ;PMID: 19500772 ;CODEN: AJHGAG

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36
Aniridia
Aniridia
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Aniridia

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1011-1017 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group Oct 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.100 ;PMID: 22692063

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37
An overview of clinical and experimental treatment modalities for port wine stains
An overview of clinical and experimental treatment modalities for port wine stains
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Article 		Add to My Research

An overview of clinical and experimental treatment modalities for port wine stains

Journal of the American Academy of Dermatology, 2012-08, Vol.67 (2), p.289 [Peer Reviewed Journal]

Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved. ;EISSN: 1097-6787 ;DOI: 10.1016/j.jaad.2011.11.938 ;PMID: 22305042

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38
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease
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Autosomal dominant polycystic kidney disease

The Lancet (British edition), 2007-04, Vol.369 (9569), p.1287-1301 [Peer Reviewed Journal]

Elsevier Ltd ;2007 Elsevier Ltd ;2007 INIST-CNRS ;Copyright Elsevier Limited Apr 14-Apr 20, 2007 ;2007. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(07)60601-1 ;PMID: 17434405 ;CODEN: LANCAO

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39
Alagille syndrome: pathogenesis, diagnosis and management
Alagille syndrome: pathogenesis, diagnosis and management
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Article 		Add to My Research

Alagille syndrome: pathogenesis, diagnosis and management

European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.251-257 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.181 ;PMID: 21934706

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40
Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

The New England journal of medicine, 2012-12, Vol.367 (23), p.2226-2232 [Peer Reviewed Journal]

Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2012 Massachusetts Medical Society. 2012 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1208594 ;PMID: 23215558 ;CODEN: NEJMAG

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