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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Sensitivity to ionising radiation of lymphocytes from Huntington's chorea patients compared to controlsJournal of medical genetics, 1982-06, Vol.19 (3), p.168-174 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Jun 1982 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.19.3.168 ;PMID: 6213774 ;CODEN: JMDGAEFull text available |
| 2 |
Material Type: Article
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Familial multiple naevi flammeiJournal of medical genetics, 1984-04, Vol.21 (2), p.112-113 [Peer Reviewed Journal]1984 INIST-CNRS ;Copyright BMJ Publishing Group LTD Apr 1984 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.21.2.112 ;PMID: 6716409 ;CODEN: JMDGAEFull text available |
| 3 |
Material Type: Article
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Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cellsJournal of medical genetics, 1986-02, Vol.23 (1), p.46-51 [Peer Reviewed Journal]1986 INIST-CNRS ;Copyright BMJ Publishing Group LTD Feb 1986 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.23.1.46 ;PMID: 3512829 ;CODEN: JMDGAEFull text available |
| 4 |
Material Type: Article
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Differentiation of heterozygotes in recessive albinismJournal of medical genetics, 1986-08, Vol.23 (4), p.323-327 [Peer Reviewed Journal]1986 INIST-CNRS ;Copyright BMJ Publishing Group LTD Aug 1986 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.23.4.323 ;PMID: 3091836 ;CODEN: JMDGAEFull text available |
| 5 |
Material Type: Article
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Homozygosity in piebald traitJournal of medical genetics, 1987-09, Vol.24 (9), p.568-571 [Peer Reviewed Journal]1987 INIST-CNRS ;Copyright BMJ Publishing Group LTD Sep 1987 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.24.9.568 ;PMID: 3669051 ;CODEN: JMDGAEFull text available |
| 6 |
Material Type: Article
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Congenital cutis laxa with retardation of growth and developmentJournal of medical genetics, 1987-09, Vol.24 (9), p.556-561 [Peer Reviewed Journal]1987 INIST-CNRS ;Copyright BMJ Publishing Group LTD Sep 1987 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.24.9.556 ;PMID: 3669050 ;CODEN: JMDGAEFull text available |
| 7 |
Material Type: Article
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Hypohidrotic ectodermal dysplasiaJournal of medical genetics, 1987-11, Vol.24 (11), p.659-663 [Peer Reviewed Journal]1988 INIST-CNRS ;Copyright BMJ Publishing Group LTD Nov 1987 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.24.11.659 ;PMID: 3323518 ;CODEN: JMDGAEFull text available |
| 8 |
Material Type: Article
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Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome)Journal of medical genetics, 1988-07, Vol.25 (7), p.488-490 [Peer Reviewed Journal]1988 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jul 1988 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.25.7.488 ;PMID: 3172143 ;CODEN: JMDGAEFull text available |
| 9 |
Material Type: Article
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Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinismJournal of medical genetics, 1988-12, Vol.25 (12), p.835-837 [Peer Reviewed Journal]1989 INIST-CNRS ;Copyright BMJ Publishing Group LTD Dec 1988 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.25.12.835 ;PMID: 3148727 ;CODEN: JMDGAEFull text available |
| 10 |
Material Type: Article
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Dyskeratosis congenitaJournal of medical genetics, 1988-12, Vol.25 (12), p.843-846 [Peer Reviewed Journal]1989 INIST-CNRS ;Copyright BMJ Publishing Group LTD Dec 1988 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.25.12.843 ;PMID: 3236366 ;CODEN: JMDGAEFull text available |
| 11 |
Material Type: Article
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Hypomelanosis of Ito: a manifestation of mosaicism or chimerismJournal of medical genetics, 1988-12, Vol.25 (12), p.809-818 [Peer Reviewed Journal]1989 INIST-CNRS ;Copyright BMJ Publishing Group LTD Dec 1988 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.25.12.809 ;PMID: 3236362 ;CODEN: JMDGAEFull text available |
| 12 |
Material Type: Article
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A single maxillary incisor as a manifestation of an ectodermal dysplasiaJournal of medical genetics, 1989-10, Vol.26 (10), p.648-651 [Peer Reviewed Journal]1990 INIST-CNRS ;Copyright BMJ Publishing Group LTD Oct 1989 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.26.10.648 ;PMID: 2585463 ;CODEN: JMDGAEFull text available |
| 13 |
Material Type: Article
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Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosumJournal of medical genetics, 1990-01, Vol.27 (1), p.21-25 [Peer Reviewed Journal]1991 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jan 1990 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.27.1.21 ;PMID: 2308151 ;CODEN: JMDGAEFull text available |
| 14 |
Material Type: Article
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Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locusJournal of medical genetics, 1992-06, Vol.29 (6), p.381-382 [Peer Reviewed Journal]1992 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jun 1992 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.29.6.381 ;PMID: 1377750 ;CODEN: JMDGAEFull text available |
| 15 |
Material Type: Article
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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 |
| 16 |
Material Type: Article
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Linkage of epidermolysis bullosa simplex to keratin gene lociJournal of medical genetics, 1992-08, Vol.29 (8), p.568-570 [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.29.8.568 ;PMID: 1381443 ;CODEN: JMDGAEFull text available |
| 17 |
Material Type: Article
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Incontinentia pigmenti (Bloch-Sulzberger syndrome)Journal of medical genetics, 1993-01, Vol.30 (1), p.53-59 [Peer Reviewed Journal]1993 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jan 1993 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.30.1.53 ;PMID: 8423608 ;CODEN: JMDGAEFull text available |
| 18 |
Material Type: Article
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Epidermal naevi and bullous aplasia cutis congenita in a neonateJournal of medical genetics, 1993-11, Vol.30 (11), p.962-963 [Peer Reviewed Journal]1994 INIST-CNRS ;Copyright BMJ Publishing Group LTD Nov 1993 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.30.11.962 ;PMID: 8301655 ;CODEN: JMDGAEFull text available |
| 19 |
Material Type: Article
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Genetic linkage to the type VII collagen gene (COL7A1) in 26 famililies with genealised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalitiesJournal of medical genetics, 1994, Vol.31 (10), p.745-748 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;CODEN: JMDGAEFull text available |
| 20 |
Material Type: Article
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Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasiaJournal of medical genetics, 1994-04, Vol.31 (4), p.287-292 [Peer Reviewed Journal]1994 INIST-CNRS ;Copyright BMJ Publishing Group LTD Apr 1994 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.31.4.287 ;PMID: 8071953 ;CODEN: JMDGAEFull text available |
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