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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A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early interventionClinical genetics, 2020-01, Vol.97 (1), p.156 [Peer Reviewed Journal]2019 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. ;EISSN: 1399-0004 ;DOI: 10.1111/cge.13586 ;PMID: 31267526Digital Resources/Online E-Resources |
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2 |
Material Type: Article
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A case of liveborn triploidy (69,XXX)Acta pædiatrica Scandinavica, 1972-03, Vol.61 (2), p.203-208 [Peer Reviewed Journal]ISSN: 0001-656X ;DOI: 10.1111/j.1651-2227.1972.tb15925.x ;PMID: 4622018Full text available |
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3 |
Material Type: Article
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Twin pregnancy in woman with 45,X/47,XXX karyotypeObstetrics and gynecology (New York. 1953), 1980-09, Vol.56 (3), p.401 [Peer Reviewed Journal]ISSN: 0029-7844 ;EISSN: 1873-233X ;PMID: 7422184Digital Resources/Online E-Resources |
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4 |
Material Type: Article
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A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXYHuman genetics, 1984-01, Vol.66 (4), p.367-369 [Peer Reviewed Journal]1985 INIST-CNRS ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/BF00287644 ;PMID: 6586638 ;CODEN: HUGEDQFull text available |
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5 |
Material Type: Article
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Letter: Possible mosaic XXX-XXY marriage with abnormal offspringThe Lancet (British edition), 1975-02, Vol.1 (7902), p.334-334 [Peer Reviewed Journal]ISSN: 0140-6736 ;EISSN: 1474-547X ;PMID: 46475Full text available |
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6 |
Material Type: Article
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Pregnancy in a woman having Turner syndrome with 45,X/46,XX/47,XXX mosaicismMedicina clínica, 1982-09, Vol.79 (4), p.189 [Peer Reviewed Journal]ISSN: 0025-7753 ;PMID: 7144294Digital Resources/Online E-Resources |
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7 |
Material Type: Article
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Is the prevalence of Klinefelter syndrome increasing?European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Peer Reviewed Journal]2008 INIST-CNRS ;Copyright Nature Publishing Group Feb 2008 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201956 ;PMID: 18000523Full text available |
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8 |
Material Type: Article
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromePrenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Peer Reviewed Journal]Copyright © 2010 John Wiley & Sons, Ltd. ;2015 INIST-CNRS ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2613 ;PMID: 20842625 ;CODEN: PRDIDMFull text available |
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9 |
Material Type: Article
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Breastfeeding in Spain and the factors related to its establishment and maintenance: LAyDI Study (PAPenRed)Atención primaria, 2024-01, Vol.56 (1), p.102772-102772 [Peer Reviewed Journal]Copyright © 2023 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved. ;EISSN: 1578-1275 ;DOI: 10.1016/j.aprim.2023.102772 ;PMID: 37741187Full text available |
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10 |
Material Type: Article
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Feb 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.148 ;PMID: 20736977Full text available |
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11 |
Material Type: Article
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Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCRGenetic testing and molecular biomarkers, 2009-02, Vol.13 (1), p.73-77 [Peer Reviewed Journal]COPYRIGHT 2009 Mary Ann Liebert, Inc. ;ISSN: 1945-0265 ;EISSN: 1945-0257 ;DOI: 10.1089/gtmb.2008.0054 ;PMID: 19309277Full text available |
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12 |
Material Type: Article
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Human molecular cytogenetics: Diagnosis, prognosis, and disease managementTeratogenesis, carcinogenesis, and mutagenesis, 2003, Vol.23 (S1), p.225-2332003 Wiley‐Liss, Inc. ;ISSN: 0270-3211 ;EISSN: 1520-6866 ;DOI: 10.1002/tcm.10049Full text available |
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13 |
Material Type: Article
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Dyslexia as a cerebral functional disorderNederlands tijdschrift voor geneeskunde, 1993-11, Vol.137 (48), p.2472ISSN: 0028-2162 ;PMID: 8272120Digital Resources/Online E-Resources |
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14 |
Material Type: Article
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Familial 5/14 translocation with triple X and 47,XY + 14qClinical genetics, 1981-07, Vol.20 (1), p.40-43 [Peer Reviewed Journal]ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.1981.tb01804.x ;PMID: 7296947Full text available |
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15 |
Material Type: Article
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Subarachnoid hemorrhage in the last pregnancy trimesterNederlands tijdschrift voor geneeskunde, 1983-09, Vol.127 (38), p.1723ISSN: 0028-2162 ;PMID: 6633715Digital Resources/Online E-Resources |
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16 |
Material Type: Conference Proceeding
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Human molecular cytogenetics: diagnosis, prognosis, and disease managementTeratogenesis, carcinogenesis, and mutagenesis, 2003, Vol.Suppl 1, p.225-233Copyright 2003 Wiley-Liss, Inc. ;ISSN: 0270-3211 ;EISSN: 1520-6866 ;PMID: 12616613Full text available |
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17 |
Material Type: Article
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Three Further Cases of Triploidy in Man Surviving to BirthJournal of medical genetics, 1973-06, Vol.10 (2), p.135-141 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Jun 1973 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.10.2.135 ;PMID: 4541379 ;CODEN: JMDGAEFull text available |
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18 |
Material Type: Article
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Prenatal diagnosis in New South Wales: comparative view of the first 1000 cases of chromosomal, sex-linked, and metabolic referralsMedical journal of Australia, 1978-10, Vol.2 (8), p.352 [Peer Reviewed Journal]ISSN: 0025-729X ;EISSN: 1326-5377 ;DOI: 10.5694/j.1326-5377.1978.tb131598.x ;PMID: 153444Digital Resources/Online E-Resources |
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19 |
Material Type: Article
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A sex chromatin and Y body survey of Toronto newbornsCanadian journal of genetics and cytology, 1974-06, Vol.16 (2), p.239ISSN: 0008-4093 ;DOI: 10.1139/g74-026 ;PMID: 4425977Digital Resources/Online E-Resources |
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20 |
Material Type: Article
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Early outcomes of preterm neonates with respiratory distress syndrome admitted at Muhimbili National Hospital, a prospective studyBMC pediatrics, 2022-12, Vol.22 (1), p.731-731, Article 731 [Peer Reviewed Journal]2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;The Author(s) 2022 ;ISSN: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-022-03731-2 ;PMID: 36550480Full text available |