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21	Material Type: Article	Haemophilias A and B The Lancet (British edition), 2003-05, Vol.361 (9371), p.1801-1809 [Peer Reviewed Journal] 2003 Elsevier Ltd ;2003 INIST-CNRS ;Copyright Lancet Ltd. May 24, 2003 ;Copyright Elsevier Limited May 24, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)13405-8 ;PMID: 12781551 ;CODEN: LANCAO Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
22	Material Type: Article	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Nature (London), 2001-09, Vol.413 (6854), p.432-435 [Peer Reviewed Journal] 2001 INIST-CNRS ;COPYRIGHT 2001 Nature Publishing Group ;Copyright Macmillan Journals Ltd. Sep 27, 2001 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/35096585 ;PMID: 11574891 ;CODEN: NATUAS Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
23	Material Type: Article	Hypothyroidism The Lancet (British edition), 2004-03, Vol.363 (9411), p.793-803 [Peer Reviewed Journal] 2004 Elsevier Ltd ;2004 INIST-CNRS ;Copyright Lancet Ltd. Mar 6, 2004 ;Copyright Elsevier Limited Mar 6, 2004 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(04)15696-1 ;PMID: 15016491 ;CODEN: LANCAO Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
24	Material Type: Article	Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour Journal of Medical Genetics, 2006-09, Vol.43 (9), p.705-715 [Peer Reviewed Journal] Copyright 2006 Journal of Medical Genetics ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 Journal of Medical Genetics ;Copyright ©2006 BMJ Publishing Group Ltd. ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2006.041723 ;PMID: 16690728 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
25	Material Type: Article	Genetic Factors in Congenital Diaphragmatic Hernia American journal of human genetics, 2007-05, Vol.80 (5), p.825-845 [Peer Reviewed Journal] 2007 The American Society of Human Genetics ;2007 INIST-CNRS ;Copyright University of Chicago, acting through its Press May 2007 ;2007 by The American Society of Human Genetics. All rights reserved. 2007 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/513442 ;PMID: 17436238 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
26	Material Type: Article	Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates Heart (British Cardiac Society), 2006-09, Vol.92 (9), p.1298-1302 [Peer Reviewed Journal] Copyright 2006 by Heart ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 by Heart ;Copyright © 2006 BMJ Publishing Group and British Cardiovascular Society ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2005.078097 ;PMID: 16449514 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
27	Material Type: Article	Controlled Clinical Trial of Dichloroacetate for Treatment of Congenital Lactic Acidosis in Children Pediatrics (Evanston), 2006-05, Vol.117 (5), p.1519-1531 [Peer Reviewed Journal] 2006 INIST-CNRS ;COPYRIGHT 2006 American Academy of Pediatrics ;Copyright American Academy of Pediatrics May 2006 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2005-1226 ;PMID: 16651305 ;CODEN: PEDIAU Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
28	Material Type: Article	Transforming Growth Factor-β Signal Transduction in Angiogenesis and Vascular Disorders Chest, 2005-12, Vol.128 (6), p.585S-590S [Peer Reviewed Journal] 2005 The American College of Chest Physicians ;2006 INIST-CNRS ;ISSN: 0012-3692 ;EISSN: 1931-3543 ;DOI: 10.1378/chest.128.6_suppl.585S ;PMID: 16373850 ;CODEN: CHETBF Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
29	Material Type: Article	The four ages of Down syndrome European journal of public health, 2007-04, Vol.17 (2), p.221-225 [Peer Reviewed Journal] The Author 2006. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved. 2007 ;Copyright Oxford University Press(England) Apr 2007 ;ISSN: 1101-1262 ;EISSN: 1464-360X ;DOI: 10.1093/eurpub/ckl103 ;PMID: 16857692 ;CODEN: EJPHF6 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
30	Material Type: Article	Mutations in VANGL1 Associated with Neural-Tube DefectsBrief Report The New England journal of medicine, 2007-04, Vol.356 (14), p.1432 [Peer Reviewed Journal] Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa060651 ;CODEN: NEJMAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
31	Material Type: Article	Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases PloS one, 2007-03, Vol.2 (3), p.e327-e327 [Peer Reviewed Journal] COPYRIGHT 2007 Public Library of Science ;2007 Lu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Lu et al. 2007 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0000327 ;PMID: 17389918 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
32	Material Type: Article	Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria Science (American Association for the Advancement of Science), 2006-03, Vol.311 (5767), p.1621-1623 [Peer Reviewed Journal] Copyright 2006 American Association for the Advancement of Science ;2007 INIST-CNRS ;Copyright American Association for the Advancement of Science Mar 17, 2006 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1124875 ;PMID: 16484451 ;CODEN: SCIEAS Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
33	Material Type: Article	Collagen VI related muscle disorders Journal of Medical Genetics, 2005-09, Vol.42 (9), p.673-685 [Peer Reviewed Journal] Copyright 2005 Journal of Medical Genetics ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2002.002311 ;PMID: 16141002 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
34	Material Type: Article	Origin and timing of brain lesions in term infants with neonatal encephalopathy The Lancet (British edition), 2003-03, Vol.361 (9359), p.736-742 [Peer Reviewed Journal] 2003 Elsevier Ltd ;Copyright Elsevier Limited Mar 1, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)12658-X ;PMID: 12620738 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
35	Material Type: Article	CHARGE syndrome: an update European journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.389-399 [Peer Reviewed Journal] 2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
36	Material Type: Article	Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly Am J Med Genet B Neuropsychiatr Genet, 2007-06, Vol.144B (4), p.484-491 [Peer Reviewed Journal] Copyright © 2007 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1552-4841 ;EISSN: 1552-485X ;DOI: 10.1002/ajmg.b.30493 ;PMID: 17427195 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
37	Material Type: Article	Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy Science (American Association for the Advancement of Science), 2006-09, Vol.313 (5795), p.1975-1978 [Peer Reviewed Journal] Copyright 2006 American Association for the Advancement of Science ;2006 INIST-CNRS ;Copyright American Association for the Advancement of Science Sep 29, 2006 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1130837 ;PMID: 16917026 ;CODEN: SCIEAS Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
38	Material Type: Article	Treatment of pulsed dye laser-resistant port wine stain birthmarks Journal of the American Academy of Dermatology, 2007-10, Vol.57 (4), p.677 [Peer Reviewed Journal] EISSN: 1097-6787 ;DOI: 10.1016/j.jaad.2007.01.019 ;PMID: 17658196 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
39	Material Type: Article	Genetics of congenital hypothyroidism Journal of Medical Genetics, 2005-05, Vol.42 (5), p.379-389 [Peer Reviewed Journal] Copyright 2005 Journal of Medical Genetics ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2004.024158 ;PMID: 15863666 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
40	Material Type: Article	A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A Nature genetics, 2004-07, Vol.36 (7), p.714-719 [Peer Reviewed Journal] 2005 INIST-CNRS ;COPYRIGHT 2004 Nature Publishing Group ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1387 ;PMID: 15220921 ;CODEN: NGENEC Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 21 - 40 of 3,854 for All Library Resources

2003 Elsevier Ltd ;2003 INIST-CNRS ;Copyright Lancet Ltd. May 24, 2003 ;Copyright Elsevier Limited May 24, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)13405-8 ;PMID: 12781551 ;CODEN: LANCAO

2001 INIST-CNRS ;COPYRIGHT 2001 Nature Publishing Group ;Copyright Macmillan Journals Ltd. Sep 27, 2001 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/35096585 ;PMID: 11574891 ;CODEN: NATUAS

2004 Elsevier Ltd ;2004 INIST-CNRS ;Copyright Lancet Ltd. Mar 6, 2004 ;Copyright Elsevier Limited Mar 6, 2004 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(04)15696-1 ;PMID: 15016491 ;CODEN: LANCAO

Copyright 2006 Journal of Medical Genetics ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 Journal of Medical Genetics ;Copyright ©2006 BMJ Publishing Group Ltd. ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2006.041723 ;PMID: 16690728 ;CODEN: JMDGAE

2007 The American Society of Human Genetics ;2007 INIST-CNRS ;Copyright University of Chicago, acting through its Press May 2007 ;2007 by The American Society of Human Genetics. All rights reserved. 2007 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/513442 ;PMID: 17436238 ;CODEN: AJHGAG

Copyright 2006 by Heart ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 by Heart ;Copyright © 2006 BMJ Publishing Group and British Cardiovascular Society ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2005.078097 ;PMID: 16449514

2006 INIST-CNRS ;COPYRIGHT 2006 American Academy of Pediatrics ;Copyright American Academy of Pediatrics May 2006 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2005-1226 ;PMID: 16651305 ;CODEN: PEDIAU

2005 The American College of Chest Physicians ;2006 INIST-CNRS ;ISSN: 0012-3692 ;EISSN: 1931-3543 ;DOI: 10.1378/chest.128.6_suppl.585S ;PMID: 16373850 ;CODEN: CHETBF

The Author 2006. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved. 2007 ;Copyright Oxford University Press(England) Apr 2007 ;ISSN: 1101-1262 ;EISSN: 1464-360X ;DOI: 10.1093/eurpub/ckl103 ;PMID: 16857692 ;CODEN: EJPHF6

Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa060651 ;CODEN: NEJMAG

Copyright 2006 American Association for the Advancement of Science ;2007 INIST-CNRS ;Copyright American Association for the Advancement of Science Mar 17, 2006 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1124875 ;PMID: 16484451 ;CODEN: SCIEAS

Copyright 2005 Journal of Medical Genetics ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2002.002311 ;PMID: 16141002 ;CODEN: JMDGAE

2003 Elsevier Ltd ;Copyright Elsevier Limited Mar 1, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)12658-X ;PMID: 12620738

2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439

Copyright © 2007 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1552-4841 ;EISSN: 1552-485X ;DOI: 10.1002/ajmg.b.30493 ;PMID: 17427195

Copyright 2006 American Association for the Advancement of Science ;2006 INIST-CNRS ;Copyright American Association for the Advancement of Science Sep 29, 2006 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1130837 ;PMID: 16917026 ;CODEN: SCIEAS

EISSN: 1097-6787 ;DOI: 10.1016/j.jaad.2007.01.019 ;PMID: 17658196

Copyright 2005 Journal of Medical Genetics ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2004.024158 ;PMID: 15863666 ;CODEN: JMDGAE

2005 INIST-CNRS ;COPYRIGHT 2004 Nature Publishing Group ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1387 ;PMID: 15220921 ;CODEN: NGENEC

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