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Material Type: Article
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12th Fetal Cell Workshop: Prague, Czech Republic, May 12-13, 2001Fetal diagnosis and therapy, 2001-11, Vol.16 (6), p.437 [Peer Reviewed Journal]ISSN: 1015-3837 ;EISSN: 1421-9964Full text available |
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Material Type: Article
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12th Fetal Cell WorkshopFetal diagnosis and therapy, 2001-12, Vol.16 (6), p.437-464 [Peer Reviewed Journal]2001 S. Karger AG, Basel ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000053955Full text available |
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3 |
Material Type: Article
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15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring AnomaliesCase reports in pediatrics, 2018-01, Vol.2018, p.8702568-5 [Peer Reviewed Journal]Copyright © 2018 Hui-Fang Zhou et al. ;Copyright © 2018 Hui-Fang Zhou et al. This is an open access article distributed under the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. http://creativecommons.org/licenses/by/4.0 ;Copyright © 2018 Hui-Fang Zhou et al. 2018 ;ISSN: 2090-6803 ;EISSN: 2090-6811 ;DOI: 10.1155/2018/8702568 ;PMID: 30538881Full text available |
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Material Type: Article
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15q23Gain in aNeonate with a GiantOmphaloceleandMiiltiple Co-Occurring AnomaliesCase reports in pediatrics, 2018-01, Vol.2018 [Peer Reviewed Journal]COPYRIGHT 2018 Hindawi Limited ;ISSN: 2090-6803 ;EISSN: 2090-6811 ;DOI: 10.1155/2018/8702568Full text available |
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Material Type: Article
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1963 Annual Meeting of the British Paediatric AssociationClinical pediatrics, 1963-09, Vol.2 (9), p.467-469 [Peer Reviewed Journal]ISSN: 0009-9228 ;EISSN: 1938-2707 ;DOI: 10.1177/000992286300200902Full text available |
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Material Type: Article
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2002 American Cytogenetic Conference Distinguished Cytogeneticist Award presented to Dr. Catherine PalmerCytogenetic and genome research, 2002-01, Vol.97 (3/4), p.261 [Peer Reviewed Journal]ISSN: 1424-8581 ;EISSN: 1424-859XFull text available |
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7 |
Material Type: Article
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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in BrazilAmerican journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32378 ;PMID: 18512234Full text available |
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8 |
Material Type: Article
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45,X/47,XXX Mosaicism and Short StatureCase reports in pediatrics, 2015-01, Vol.2015, p.263253-3 [Peer Reviewed Journal]Copyright © 2015 Erica Everest et al. ;Copyright © 2015 Erica Everest et al. Erica Everest et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2015 Erica Everest et al. 2015 ;ISSN: 2090-6803 ;EISSN: 2090-6811 ;DOI: 10.1155/2015/263253 ;PMID: 26137340Full text available |
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Material Type: Article
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45,X mosaicism in northeast China: a clinical report and review of the literatureJournal of assisted reproduction and genetics, 2013-03, Vol.30 (3), p.407-412 [Peer Reviewed Journal]The Author(s) 2013 ;Springer Science+Business Media New York 2013 ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-012-9927-3 ;PMID: 23299637Full text available |
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Material Type: Article
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48,XYYY: A Rare Case ReportBalkan journal of medical genetics, 2022-06, Vol.24 (2), p.103-106 [Peer Reviewed Journal]2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1311-0160 ;EISSN: 2199-5761 ;DOI: 10.2478/bjmg-2021-0029Full text available |
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11 |
Material Type: Article
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Aberrant recombination and the origin of Klinefelter syndromeHuman reproduction update, 2003-07, Vol.9 (4), p.309-317 [Peer Reviewed Journal]ISSN: 1355-4786 ;EISSN: 1460-2369 ;DOI: 10.1093/humupd/dmg028 ;PMID: 12926525 ;CODEN: HRUPF8Full text available |
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12 |
Material Type: Article
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Abgrenzung der Totgeburt von der Fehlgeburt – Auswirkungen auf die ärztliche Leichenschau: Eine Auswertung der relevanten Landes- und BundesgesetzeRechtsmedizin (Berlin, Germany), 2024-02, Vol.34 (1), p.10-16 [Peer Reviewed Journal]The Author(s) 2023 ;ISSN: 0937-9819 ;EISSN: 1434-5196 ;DOI: 10.1007/s00194-023-00666-5Digital Resources/Online E-Resources |
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13 |
Material Type: Article
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Abnormal X‐Chromosome Dosage Compensation as a Possible Cause of Early Developmental Failure in MiceDevelopment, growth & differentiation, 1991-10, Vol.33 (5), p.429-435 [Peer Reviewed Journal]1992 INIST-CNRS ;ISSN: 0012-1592 ;EISSN: 1440-169X ;DOI: 10.1111/j.1440-169X.1991.00429.x ;PMID: 37281264Full text available |
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14 |
Material Type: Article
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Abnormalities of the umbilico‐portal venous system in Down syndrome: A report of two new patientsAmerican journal of medical genetics. Part A, 2003-08, Vol.120A (4), p.528-532 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.20081 ;PMID: 12884433Full text available |
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Material Type: Article
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Absent/Hypoplastic Fetal Nasal Bone and Its Association with AneuploidiesJournal of fetal medicine, 2015-06, Vol.2 (2), p.75-78 [Peer Reviewed Journal]Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ;ISSN: 2348-1153 ;EISSN: 2348-8859 ;DOI: 10.1007/s40556-015-0051-1Digital Resources/Online E-Resources |
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Material Type: Article
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Abstracts from the 51st European Society of Human Genetics Conference: PostersEuropean journal of human genetics : EJHG, 2019-07, Vol.27 (S1), p.1-688 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2019 ;European Society of Human Genetics 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0404-7Full text available |
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17 |
Material Type: Article
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Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: PostersEuropean journal of human genetics : EJHG, 2019-10, Vol.27 (S2), p.1814-1920 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2019 ;European Society of Human Genetics 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0493-3Full text available |
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Material Type: Article
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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-PostersEuropean journal of human genetics : EJHG, 2020-12, Vol.28 (Suppl 1), p.798-1016 [Peer Reviewed Journal]European Society of Human Genetics 2020. Modified from the conference website and published with permission 2020. ;European Society of Human Genetics 2020. Modified from the conference website and published with permission 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00741-5 ;PMID: 33262486Full text available |
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19 |
Material Type: Article
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Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-PostersEuropean journal of human genetics : EJHG, 2022-04, Vol.30 (S1), p.88-608 [Peer Reviewed Journal]The Author(s), under exclusive licence to European Society of Human Genetics 2022. ;The Author(s), under exclusive licence to European Society of Human Genetics 2022 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-01026-1 ;PMID: 35393538Full text available |
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20 |
Material Type: Article
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Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-PostersEuropean journal of human genetics : EJHG, 2024-01, Vol.32 (S1), p.91-348 [Peer Reviewed Journal]The Author(s), under exclusive licence to European Society of Human Genetics 2023. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-023-01481-yFull text available |