Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2Nature genetics, 1996-06, Vol.13 (2), p.189-195 [Peer Reviewed Journal]1996 INIST-CNRS ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng0696-189 ;PMID: 8640225 ;CODEN: NGENECFull text available |
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2 |
Material Type: Article
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Frequent attendance at religious services and mortality over 28 yearsAmerican journal of public health (1971), 1997-06, Vol.87 (6), p.957-961 [Peer Reviewed Journal]1997 INIST-CNRS ;Copyright American Public Health Association Jun 1997 ;ISSN: 0090-0036 ;EISSN: 1541-0048 ;DOI: 10.2105/AJPH.87.6.957 ;PMID: 9224176 ;CODEN: AJPEAGFull text available |
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3 |
Material Type: Article
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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas DeferensThe New England journal of medicine, 1995-06, Vol.332 (22), p.1475-1480 [Peer Reviewed Journal]Copyright © 1995 Massachusetts Medical Society. All rights reserved. ;1995 INIST-CNRS ;(c) Massachusetts Medical Society, 1995 info:eu-repo/semantics/openAccess ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199506013322204 ;PMID: 7739684 ;CODEN: NEJMAGFull text available |
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4 |
Material Type: Article
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Alopecia Universalis Associated with a Mutation in the Human Hairless GeneScience (American Association for the Advancement of Science), 1998-01, Vol.279 (5351), p.720-724 [Peer Reviewed Journal]Copyright 1998 American Association for the Advancement of Science ;1998 INIST-CNRS ;COPYRIGHT 1998 American Association for the Advancement of Science ;Copyright American Association for the Advancement of Science Jan 30, 1998 ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.279.5351.720 ;PMID: 9445480 ;CODEN: SCIEASFull text available |
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5 |
Material Type: Article
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Identification and mutation analysis of the complete gene for Chediak-Higashi syndromeNature genetics, 1996-11, Vol.14 (3), p.307-311 [Peer Reviewed Journal]1997 INIST-CNRS ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1196-307 ;PMID: 8896560 ;CODEN: NGENECFull text available |
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6 |
Material Type: Article
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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromeNature genetics, 1997-10, Vol.17 (2), p.240-244 [Peer Reviewed Journal]1997 INIST-CNRS ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1097-240 ;PMID: 9326952 ;CODEN: NGENECFull text available |
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7 |
Material Type: Article
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Guidelines of care for hemangiomas of infancyJournal of the American Academy of Dermatology, 1997-10, Vol.37 (4), p.631-637 [Peer Reviewed Journal]1997 ;1997 INIST-CNRS ;ISSN: 0190-9622 ;EISSN: 1097-6787 ;DOI: 10.1016/S0190-9622(97)70183-X ;CODEN: JAADDBFull text available |
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8 |
Material Type: Article
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The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous RepeatsHuman molecular genetics, 1998-10, Vol.7 (11), p.1661-1669 [Peer Reviewed Journal]1998 INIST-CNRS ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/7.11.1661 ;PMID: 9736768Full text available |
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9 |
Material Type: Article
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Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunityArchives of disease in childhood, 1998-09, Vol.79 (3), p.242-245 [Peer Reviewed Journal]Royal College of Paediatrics and Child Health ;1998 INIST-CNRS ;Copyright: 1998 Royal College of Paediatrics and Child Health ;ISSN: 0003-9888 ;ISSN: 1468-2044 ;EISSN: 1468-2044 ;DOI: 10.1136/adc.79.3.242 ;PMID: 9875020 ;CODEN: ADCHAKFull text available |
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10 |
Material Type: Article
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Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese familiesJournal of medical genetics, 1998-06, Vol.35 (6), p.502-504 [Peer Reviewed Journal]1998 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jun 1998 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.35.6.502 ;PMID: 9643293 ;CODEN: JMDGAEFull text available |
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11 |
Material Type: Article
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Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia MutationsAmerican journal of human genetics, 1998-08, Vol.63 (2), p.380-389 [Peer Reviewed Journal]1998 The American Society of Human Genetics ;1998 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/301984 ;PMID: 9683615 ;CODEN: AJHGAGFull text available |
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12 |
Material Type: Article
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The pH Gradient over the Stratum Corneum Differs in X-Linked Recessive and Autosomal Dominant Ichthyosis: A Clue to the Molecular Origin of the “Acid Skin Mantle”?Journal of investigative dermatology, 1998-10, Vol.111 (4), p.674-677 [Peer Reviewed Journal]1998 The Society for Investigative Dermatology, Inc ;1998 INIST-CNRS ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1046/j.1523-1747.1998.00356.x ;PMID: 9764852 ;CODEN: JIDEAEFull text available |
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13 |
Material Type: Article
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Mutations in the Gene for the Granulocyte Colony-Stimulating–Factor Receptor in Patients with Acute Myeloid Leukemia Preceded by Severe Congenital NeutropeniaThe New England journal of medicine, 1995-08, Vol.333 (8), p.487-493 [Peer Reviewed Journal]Copyright © 1995 Massachusetts Medical Society. All rights reserved. ;1995 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199508243330804 ;PMID: 7542747 ;CODEN: NEJMAGFull text available |
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14 |
Material Type: Article
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Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significanceInternational journal of dermatology, 1998-12, Vol.37 (12), p.911-917 [Peer Reviewed Journal]1999 INIST-CNRS ;ISSN: 0011-9059 ;EISSN: 1365-4632 ;DOI: 10.1046/j.1365-4362.1998.00495.x ;PMID: 9888331 ;CODEN: IJDEBBFull text available |
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15 |
Material Type: Article
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Mutations of Keratinocyte Transglutaminase in Lamellar IchthyosisScience (American Association for the Advancement of Science), 1995-01, Vol.267 (5197), p.525-528 [Peer Reviewed Journal]Copyright 1995 American Association for the Advancement of Science ;1995 INIST-CNRS ;COPYRIGHT 1995 American Association for the Advancement of Science ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.7824952 ;PMID: 7824952 ;CODEN: SCIEASFull text available |
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16 |
Material Type: Article
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Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase geneNature genetics, 1996-01, Vol.12 (1), p.52-57 [Peer Reviewed Journal]1996 INIST-CNRS ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng0196-52 ;PMID: 8528251 ;CODEN: NGENECFull text available |
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17 |
Material Type: Article
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Control of rubella and congenital rubella syndrome (CRS) in developing countries, part 1: burden of disease from CRSBulletin of the World Health Organization, 1997, Vol.75 (1), p.55-68 [Peer Reviewed Journal]1997 INIST-CNRS ;Copyright World Health Organization 1997 ;ISSN: 0042-9686 ;EISSN: 1564-0604 ;PMID: 9141751 ;CODEN: BWHOA6Full text available |
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18 |
Material Type: Article
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Folding of Secretory and Membrane ProteinsThe New England journal of medicine, 1998-12, Vol.339 (23), p.1688-1695 [Peer Reviewed Journal]Copyright © 1998 Massachusetts Medical Society. All rights reserved. ;1999 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199812033392307 ;PMID: 9834307 ;CODEN: NEJMAGFull text available |
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19 |
Material Type: Article
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Germline PTEN mutations in Cowden syndrome-like familiesJournal of medical genetics, 1998-11, Vol.35 (11), p.881-885 [Peer Reviewed Journal]1998 INIST-CNRS ;Copyright BMJ Publishing Group LTD Nov 1998 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.35.11.881 ;PMID: 9832031 ;CODEN: JMDGAEFull text available |
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20 |
Material Type: Article
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Port-wine stains unresponsive to pulsed dye laser: explanations and solutionsBritish journal of dermatology (1951), 1998-08, Vol.139 (2), p.173-177 [Peer Reviewed Journal]British Association of Dermatology ;1998 INIST-CNRS ;Copyright Blackwell Scientific Publications Ltd. Aug 1998 ;ISSN: 0007-0963 ;EISSN: 1365-2133 ;DOI: 10.1046/j.1365-2133.1998.02351.x ;PMID: 9767228 ;CODEN: BJDEAZFull text available |