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| 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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Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndromeJournal of medical genetics, 1968-09, Vol.5 (3), p.227-252 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Sep 1968 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.5.3.227 ;PMID: 5708029 ;CODEN: JMDGAEFull text available |
| 2 |
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Torus mandibularis in an Alaskan Eskimo populationAmerican journal of physical anthropology, 1970-07, Vol.33 (1), p.57-60 [Peer Reviewed Journal]Copyright © 1970 Wiley‐Liss, Inc., A Wiley Company ;ISSN: 0002-9483 ;EISSN: 1096-8644 ;DOI: 10.1002/ajpa.1330330109 ;PMID: 5431487Full text available |
| 3 |
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Four new cases of ring 21 and 22 including familial transmission of ring 21Journal of medical genetics, 1977-02, Vol.14 (1), p.54-60 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Feb 1977 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.14.1.54 ;PMID: 839502 ;CODEN: JMDGAEFull text available |
| 4 |
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Chromosomal abnormality rates at amniocentesis and in live-born infantsJAMA : the journal of the American Medical Association, 1983-04, Vol.249 (15), p.2034 [Peer Reviewed Journal]ISSN: 0098-7484 ;EISSN: 1538-3598 ;DOI: 10.1001/jama.1983.03330390038028 ;PMID: 6220164Digital Resources/Online E-Resources |
| 5 |
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United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosisPrenatal diagnosis, 1984-01, Vol.4 (7), p.97-130 [Peer Reviewed Journal]Copyright © 1984 John Wiley & Sons, Ltd. ;1984 INIST-CNRS ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1970040708 ;PMID: 6463035 ;CODEN: PRDIDMFull text available |
| 6 |
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Recurrent pregnancy losses and parental chromosome abnormalities: a reviewBritish journal of obstetrics and gynaecology, 1985-09, Vol.92 (9), p.899-914 [Peer Reviewed Journal]1986 INIST-CNRS ;ISSN: 0306-5456 ;EISSN: 1365-215X ;DOI: 10.1111/j.1471-0528.1985.tb03069.x ;PMID: 3899162 ;CODEN: BJOGASFull text available |
| 7 |
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Four-Agent Induction and Intensive Asparaginase Therapy for Treatment of Childhood Acute Lymphoblastic LeukemiaThe New England journal of medicine, 1986-09, Vol.315 (11), p.657-663 [Peer Reviewed Journal]Copyright Massachusetts Medical Society Sep 11, 1986 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198609113151101 ;PMID: 2943992Full text available |
| 8 |
Material Type: Article
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47,XXX: what is the prognosis?Pediatrics (Evanston), 1988-10, Vol.82 (4), p.619-630 [Peer Reviewed Journal]ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.82.4.619 ;PMID: 2459656Digital Resources/Online E-Resources |
| 9 |
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Malformations Due to Presumed Spontaneous Mutations in Newborn InfantsThe New England journal of medicine, 1989-01, Vol.320 (1), p.19-23 [Peer Reviewed Journal]1989 INIST-CNRS ;Copyright Massachusetts Medical Society Jan 5, 1989 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198901053200104 ;PMID: 2909875 ;CODEN: NEJMAGFull text available |
| 10 |
Material Type: Article
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Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor accident: temporal correlation or causal relation?BMJ, 1994-07, Vol.309 (6948), p.158-162 [Peer Reviewed Journal]1994 BMJ Publishing Group Ltd. ;Copyright 1994 British Medical Journal ;Copyright: 1994 (c) 1994 BMJ Publishing Group Ltd. ;ISSN: 0959-8138 ;EISSN: 1468-5833 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.309.6948.158 ;PMID: 8044094Full text available |
| 11 |
Material Type: Article
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Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysisPrenatal diagnosis, 1994-11, Vol.14 (11), p.1035-1041 [Peer Reviewed Journal]Copyright © 1994 John Wiley & Sons, Ltd. ;1995 INIST-CNRS ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1970141105 ;PMID: 7877951 ;CODEN: PRDIDMFull text available |
| 12 |
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A liveborn infant with triploidy (69, XXX): report of one caseZhonghua minguo xiaoerke yixuehui zazhi, 1994-11, Vol.35 (6), p.559ISSN: 0001-6578 ;PMID: 7831991Digital Resources/Online E-Resources |
| 13 |
Material Type: Article
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Human aneuploidy: Incidence, origin, and etiologyEnvironmental and molecular mutagenesis, 1996, Vol.28 (3), p.167-175 [Peer Reviewed Journal]Copyright © 1996 Wiley‐Liss, Inc. ;1997 INIST-CNRS ;ISSN: 0893-6692 ;EISSN: 1098-2280 ;DOI: 10.1002/(SICI)1098-2280(1996)28:3<167::AID-EM2>3.0.CO;2-B ;PMID: 8908177 ;CODEN: EMMUEGFull text available |
| 14 |
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Liver transplantation in mitochondrial respiratory chain disordersEuropean journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S81-S084 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 1999 ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/pl00014328 ;PMID: 10603105Full text available |
| 15 |
Material Type: Article
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Frequency of renal malformations in turner syndrome: analysis of 82 Turkish childrenPediatric nephrology (Berlin, West), 2000-10, Vol.14 (12), p.1111-1114 [Peer Reviewed Journal]2000 INIST-CNRS ;IPNA - International Pediatric Nephrology Association New York, USA 2000 ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s004670000315 ;PMID: 11045397 ;CODEN: PENED3Full text available |
| 16 |
Material Type: Article
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Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndromeEuropean journal of human genetics : EJHG, 2001-06, Vol.9 (6), p.409-418 [Peer Reviewed Journal]Copyright Nature Publishing Group Jun 2001 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5200649 ;PMID: 11436121Full text available |
| 17 |
Material Type: Article
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Peer Reviewed Journal]Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.3.217 ;PMID: 11897829 ;CODEN: JMDGAEFull text available |
| 18 |
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Diploid/triploid mosaicism in dysmorphic patientsClinical genetics, 2002-11, Vol.62 (5), p.376-382 [Peer Reviewed Journal]2003 INIST-CNRS ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1034/j.1399-0004.2002.620504.x ;PMID: 12431252 ;CODEN: CLGNAYFull text available |
| 19 |
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Congenital Abdominal Wall Defects: An UpdateFetal diagnosis and therapy, 2004-01, Vol.19 (5), p.385-398 [Peer Reviewed Journal]2004 S. Karger AG, Basel ;2004 INIST-CNRS ;Copyright 2004 S. Karger AG, Basel ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000078990 ;PMID: 15305094Full text available |
| 20 |
Material Type: Article
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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype mapJournal of medical genetics, 2004-09, Vol.41 (9), p.691-698 [Peer Reviewed Journal]Copyright 2004 Journal of Medical Genetics ;2004 INIST-CNRS ;Copyright: 2004 Copyright 2004 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2003.016865 ;PMID: 15342700 ;CODEN: JMDGAEFull text available |
Results 1 - 20 of 52 for All Library Resources
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