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1
Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004
Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004
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Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004

Clinical infectious diseases, 2010-06, Vol.50 (11), p.1439-1447 [Peer Reviewed Journal]

2010 Infectious Diseases Society of America ;2010 Infectious Diseases Society of America 2010 ;2015 INIST-CNRS ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/652438 ;PMID: 20426575 ;CODEN: CIDIEL

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2
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

American journal of human genetics, 2012-03, Vol.90 (3), p.558-564 [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 Mar 9, 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.2012.02.006 ;PMID: 22405088 ;CODEN: AJHGAG

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3
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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4
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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5
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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6
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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7
Antitrypanosomal Therapy for Chronic Chagas' Disease
Antitrypanosomal Therapy for Chronic Chagas' Disease
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Antitrypanosomal Therapy for Chronic Chagas' Disease

The New England journal of medicine, 2011-06, Vol.364 (26), p.2527-2534 [Peer Reviewed Journal]

Copyright © 2011 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMct1014204 ;PMID: 21714649 ;CODEN: NEJMAG

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8
Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes
Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes
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Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes

Annals of the rheumatic diseases, 2011-12, Vol.70 (12), p.2095-2102 [Peer Reviewed Journal]

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 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: 0003-4967 ;EISSN: 1468-2060 ;DOI: 10.1136/ard.2011.152728 ;PMID: 21859692 ;CODEN: ARDIAO

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9
Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations
Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations
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Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations

Journal of clinical oncology, 2014-06, Vol.32 (17), p.1818-1824 [Peer Reviewed Journal]

2015 INIST-CNRS ;2014 by American Society of Clinical Oncology. ;2014 by American Society of Clinical Oncology 2014 ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/JCO.2013.53.6656 ;PMID: 24778394

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10
Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú Syndrome Is Caused by Mutations in ABCC9
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Cantú Syndrome Is Caused by Mutations in ABCC9

American journal of human genetics, 2012-06, Vol.90 (6), p.1094-1101 [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.2012.04.014 ;PMID: 22608503 ;CODEN: AJHGAG

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11
Long-term follow-up of patients on home parenteral nutrition in Europe: implications for intestinal transplantation
Long-term follow-up of patients on home parenteral nutrition in Europe: implications for intestinal transplantation
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Long-term follow-up of patients on home parenteral nutrition in Europe: implications for intestinal transplantation

Gut, 2011-01, Vol.60 (1), p.17-25 [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: 0017-5749 ;ISSN: 1468-3288 ;EISSN: 1468-3288 ;DOI: 10.1136/gut.2010.223255 ;PMID: 21068130 ;CODEN: GUTTAK

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12
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

Journal of medical genetics, 2012-01, Vol.49 (1), p.47-57 [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 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2011-100382 ;PMID: 22167769 ;CODEN: JMDGAE

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13
Anti-TNF therapies and pregnancy: outcome of 130 pregnancies in the British Society for Rheumatology Biologics Register
Anti-TNF therapies and pregnancy: outcome of 130 pregnancies in the British Society for Rheumatology Biologics Register
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Anti-TNF therapies and pregnancy: outcome of 130 pregnancies in the British Society for Rheumatology Biologics Register

Annals of the rheumatic diseases, 2011-05, Vol.70 (5), p.823-826 [Peer Reviewed Journal]

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 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 ;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 2011 ;ISSN: 0003-4967 ;EISSN: 1468-2060 ;DOI: 10.1136/ard.2010.140822 ;PMID: 21362710 ;CODEN: ARDIAO

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14
Social burden and lifestyle in adults with congenital heart disease
Social burden and lifestyle in adults with congenital heart disease
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Social burden and lifestyle in adults with congenital heart disease

The American journal of cardiology, 2012-06, Vol.109 (11), p.1657 [Peer Reviewed Journal]

Copyright © 2012 Elsevier Inc. All rights reserved. ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2012.01.397 ;PMID: 22444325

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15
Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome
Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome
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Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

American journal of human genetics, 2010-06, Vol.86 (6), p.872-880 [Peer Reviewed Journal]

2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jun 11, 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 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.017 ;PMID: 20560207 ;CODEN: AJHGAG

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16
Mutations in DSTYK and Dominant Urinary Tract Malformations
Mutations in DSTYK and Dominant Urinary Tract Malformations
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Mutations in DSTYK and Dominant Urinary Tract Malformations

The New England journal of medicine, 2013-08, Vol.369 (7), p.621-629 [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/NEJMoa1214479 ;PMID: 23862974 ;CODEN: NEJMAG

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17
Prevalence of left ventricular systolic dysfunction in adults with repaired tetralogy of fallot
Prevalence of left ventricular systolic dysfunction in adults with repaired tetralogy of fallot
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Prevalence of left ventricular systolic dysfunction in adults with repaired tetralogy of fallot

The American journal of cardiology, 2011-04, Vol.107 (8), p.1215 [Peer Reviewed Journal]

Copyright © 2011 Elsevier Inc. All rights reserved. ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2010.12.026 ;PMID: 21349477

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18
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Annals of neurology, 2012-10, Vol.72 (4), p.550-558 [Peer Reviewed Journal]

Copyright © 2012 American Neurological Association ;2014 INIST-CNRS ;Copyright © 2012 American Neurological Association. ;ISSN: 0364-5134 ;EISSN: 1531-8249 ;DOI: 10.1002/ana.23632 ;PMID: 23109149 ;CODEN: ANNED3

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19
An epistaxis severity score for hereditary hemorrhagic telangiectasia
An epistaxis severity score for hereditary hemorrhagic telangiectasia
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An epistaxis severity score for hereditary hemorrhagic telangiectasia

The Laryngoscope, 2010-04, Vol.120 (4), p.838-843 [Peer Reviewed Journal]

Copyright © 2010 The American Laryngological, Rhinological, and Otological Society, Inc. ;2015 INIST-CNRS ;ISSN: 0023-852X ;EISSN: 1531-4995 ;DOI: 10.1002/lary.20818 ;PMID: 20087969 ;CODEN: LARYA8

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20
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer
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Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer

The Journal of urology, 2013-12, Vol.190 (6), p.1990 [Peer Reviewed Journal]

Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved. ;EISSN: 1527-3792 ;DOI: 10.1016/j.juro.2013.06.012 ;PMID: 23764071

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