Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5The New England journal of medicine, 1992-04, Vol.326 (14), p.905-909 [Peer Reviewed Journal]Copyright Massachusetts Medical Society Apr 2, 1992 ;Copyright Massachusetts Medical Society, Publishing Division Apr 2, 1992 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199204023261401 ;CODEN: NEJMAGFull text available |
|
2 |
Material Type: Article
|
Long-Term Outcome after Surgical Repair of Isolated Atrial Septal Defect: Follow-up at 27 to 32 YearsThe New England journal of medicine, 1990-12, Vol.323 (24), p.1645-1650 [Peer Reviewed Journal]1993 INIST-CNRS ;Copyright Massachusetts Medical Society Dec 13, 1990 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199012133232401 ;PMID: 2233961 ;CODEN: NEJMAGFull text available |
|
3 |
Material Type: Article
|
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa : a consensus report by the Subcommittee on diagnosis and classification of the national epidermolysis bullosa registryJournal of the American Academy of Dermatology, 1991, Vol.24 (1), p.119-135 [Peer Reviewed Journal]1991 INIST-CNRS ;ISSN: 0190-9622 ;EISSN: 1097-6787 ;DOI: 10.1016/0190-9622(91)70021-S ;PMID: 1999509 ;CODEN: JAADDBFull text available |
|
4 |
Material Type: Article
|
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blisteringNature (London), 1992-03, Vol.356 (6366), p.244-246 [Peer Reviewed Journal]1992 INIST-CNRS ;Copyright Macmillan Journals Ltd. Mar 19, 1992 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/356244a0 ;PMID: 1372711 ;CODEN: NATUASFull text available |
|
5 |
Material Type: Article
|
Neurocutaneous melanosis: Definition and review of the literatureJournal of the American Academy of Dermatology, 1991-05, Vol.24 (5), p.747-755 [Peer Reviewed Journal]1991 American Academy of Dermatology, Inc. ;1991 INIST-CNRS ;ISSN: 0190-9622 ;EISSN: 1097-6787 ;DOI: 10.1016/0190-9622(91)70115-I ;PMID: 1869648 ;CODEN: JAADDBFull text available |
|
6 |
Material Type: Article
|
Maternal-Fetal Transfer of Thyroxine in Congenital Hypothyroidism Due to a Total Organification Defect or Thyroid AgenesisThe New England journal of medicine, 1989-07, Vol.321 (1), p.13-16 [Peer Reviewed Journal]1990 INIST-CNRS ;Copyright Massachusetts Medical Society Jul 6, 1989 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198907063210103 ;PMID: 2733742 ;CODEN: NEJMAGFull text available |
|
7 |
Material Type: Article
|
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndromeCell, 1990-08, Vol.62 (4), p.777-791 [Peer Reviewed Journal]1990 ;1991 INIST-CNRS ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/0092-8674(90)90122-U ;PMID: 2167179 ;CODEN: CELLB5Full text available |
|
8 |
Material Type: Article
|
Right Ventricular Cardiomyopathy and Sudden Death in Young PeopleThe New England journal of medicine, 1988-01, Vol.318 (3), p.129-133 [Peer Reviewed Journal]1988 INIST-CNRS ;Copyright Massachusetts Medical Society Jan 21, 1988 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198801213180301 ;PMID: 3336399 ;CODEN: NEJMAGFull text available |
|
9 |
Material Type: Article
|
Current Concepts: Transfusion-Associated Graft-versus-Host DiseaseThe New England journal of medicine, 1990-08, Vol.323 (5), p.315 [Peer Reviewed Journal]Copyright Massachusetts Medical Society Aug 2, 1990 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199008023230506Full text available |
|
10 |
Material Type: Article
|
The Genetic Defect in Cockayne Syndrome is Associated with a Defect in Repair of UV-Induced DNA Damage in Transcriptionally Active DNAProceedings of the National Academy of Sciences - PNAS, 1990-06, Vol.87 (12), p.4707-4711 [Peer Reviewed Journal]1991 INIST-CNRS ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.87.12.4707 ;PMID: 2352945 ;CODEN: PNASA6Full text available |
|
11 |
Material Type: Article
|
Antecedents of Cerebral PalsyThe New England journal of medicine, 1986-07, Vol.315 (2), p.81-86 [Peer Reviewed Journal]Copyright Massachusetts Medical Society Jul 10, 1986 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198607103150202Full text available |
|
12 |
Material Type: Article
|
Hereditary haemorrhagic telangiectasia: a clinical analysisJournal of medical genetics, 1992-08, Vol.29 (8), p.527-530 [Peer Reviewed Journal]1992 INIST-CNRS ;Copyright BMJ Publishing Group LTD Aug 1992 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.29.8.527 ;PMID: 1518020 ;CODEN: JMDGAEFull text available |
|
13 |
Material Type: Article
|
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domainNature (London), 1990-11, Vol.348 (6296), p.73-76 [Peer Reviewed Journal]1991 INIST-CNRS ;Copyright Macmillan Journals Ltd. Nov 1, 1990 ;Copyright Nature Publishing Group Nov 1, 1990 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/348073a0 ;PMID: 2234061 ;CODEN: NATUASFull text available |
|
14 |
Material Type: Article
|
Severe limb abnormalities after chorion villus sampling at 56-66 days' gestationThe Lancet (British edition), 1991-03, Vol.337 (8744), p.762-763 [Peer Reviewed Journal]1991 ;1992 INIST-CNRS ;Copyright Lancet Ltd. Mar 30, 1991 ;Copyright Elsevier Limited Mar 30, 1991 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/0140-6736(91)91374-4 ;PMID: 1672394 ;CODEN: LANCAOFull text available |
|
15 |
Material Type: Article
|
Increased Need for Thyroxine during Pregnancy in Women with Primary HypothyroidismThe New England journal of medicine, 1990-07, Vol.323 (2), p.91-96 [Peer Reviewed Journal]Copyright Massachusetts Medical Society Jul 12, 1990 ;Copyright Massachusetts Medical Society, Publishing Division Jul 12, 1990 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199007123230204 ;PMID: 2359428 ;CODEN: NEJMAGFull text available |
|
16 |
Material Type: Article
|
Treatment of Children with Port-Wine Stains Using the Flashlamp-Pulsed Tunable Dye LaserThe New England journal of medicine, 1989-02, Vol.320 (7), p.416-421 [Peer Reviewed Journal]1989 INIST-CNRS ;Copyright Massachusetts Medical Society Feb 16, 1989 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198902163200702 ;PMID: 2913507 ;CODEN: NEJMAGFull text available |
|
17 |
Material Type: Article
|
Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred ChildrenScience (American Association for the Advancement of Science), 1987-06, Vol.236 (4808), p.1567-1570 [Peer Reviewed Journal]Copyright 1987 The American Association for the Advancement of Science ;1987 INIST-CNRS ;COPYRIGHT 1987 American Association for the Advancement of Science ;Copyright American Association for the Advancement of Science Jun 19, 1987 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.2884728 ;PMID: 2884728 ;CODEN: SCIEASDigital Resources/Online E-Resources |
|
18 |
Material Type: Article
|
Effects of Recombinant Human Granulocyte Colony-Stimulating Factor on Neutropenia in Patients with Congenital AgranulocytosisThe New England journal of medicine, 1989-06, Vol.320 (24), p.1574-1580 [Peer Reviewed Journal]1990 INIST-CNRS ;Copyright Massachusetts Medical Society Jun 15, 1989 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198906153202402 ;PMID: 2471075 ;CODEN: NEJMAGFull text available |
|
19 |
Material Type: Article
|
Xeroderma Pigmentosum Group E Cells Lack a Nuclear Factor That Binds to Damaged DNAScience (American Association for the Advancement of Science), 1988-10, Vol.242 (4878), p.564-567 [Peer Reviewed Journal]Copyright 1988 The American Association for the Advancement of Science ;1989 INIST-CNRS ;COPYRIGHT 1988 American Association for the Advancement of Science ;Copyright American Association for the Advancement of Science Oct 28, 1988 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.3175673 ;PMID: 3175673 ;CODEN: SCIEASFull text available |
|
20 |
Material Type: Article
|
Renal Transplantation in Children: A Report of the North American Pediatric Renal Transplant Cooperative StudyThe New England journal of medicine, 1992-06, Vol.326 (26), p.1727-1732 [Peer Reviewed Journal]1992 INIST-CNRS ;Copyright Massachusetts Medical Society Jun 25, 1992 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199206253262602 ;PMID: 1594014 ;CODEN: NEJMAGFull text available |