Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesisMolecular cytogenetics, 2021-02, Vol.14 (1), p.9-9, Article 9 [Peer Reviewed Journal]COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-021-00529-2 ;PMID: 33573679Full text available |
|
2 |
Material Type: Article
|
Clinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University HospitalJournal of pediatric ophthalmology and strabismus, 2023-12, p.1-10 [Peer Reviewed Journal]COPYRIGHT 2023 Slack, Inc. ;Copyright 2023, SLACK Incorporated ;ISSN: 0191-3913 ;ISSN: 0022-0124 ;EISSN: 1938-2405 ;EISSN: 1938-2472 ;DOI: 10.3928/01913913-20231026-04 ;PMID: 38112386Full text available |
|
3 |
Material Type: Article
|
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, PakistanPakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Peer Reviewed Journal]Copyright: © Pakistan Journal of Medical Sciences. ;COPYRIGHT 2021 Knowledge Bylanes ;COPYRIGHT 2021 Knowledge Bylanes ;(c)2021 Pakistan Journal of Medical Sciences ;Copyright: © Pakistan Journal of Medical Sciences 2021 ;ISSN: 1682-024X ;EISSN: 1681-715X ;DOI: 10.12669/pjms.37.1.2991 ;PMID: 33437285Full text available |
|
4 |
Material Type: Article
|
Venous Tortuosity in COL4A2 -Associated Gould SyndromeOphthalmic surgery, lasers & imaging, 2023-09, Vol.54 (9), p.536-539 [Peer Reviewed Journal]COPYRIGHT 2023 Slack, Inc. ;Copyright 2023, SLACK Incorporated ;ISSN: 2325-8160 ;EISSN: 2325-8179 ;EISSN: 1938-2375 ;DOI: 10.3928/23258160-20230811-01Full text available |
|
5 |
Material Type: Article
|
Highlights from this issueBritish journal of ophthalmology, 2017-06, Vol.101 (6), p.i [Peer Reviewed Journal]Copyright: 2017 (c) Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0007-1161 ;EISSN: 1468-2079 ;DOI: 10.1136/bjophthalmol-2017-310692 ;CODEN: BJOPALFull text available |
|
6 |
Material Type: Article
|
Goltz Syndrome Combined with Triple X Syndrome, a Case ReportThe Cleft palate-craniofacial journal, 2024-03, Vol.61 (3), p.534-538 [Peer Reviewed Journal]2022, American Cleft Palate Craniofacial Association ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;DOI: 10.1177/10556656221141236 ;PMID: 36443947Digital Resources/Online E-Resources |
|
7 |
Material Type: Article
|
Non-human Papillomavirus Cervical Mucinous Adenocarcinoma in a Phenotypic Male with Congenital Adrenal HyperplasiaCurēus (Palo Alto, CA), 2018-11, Vol.10 (11), p.e3607 [Peer Reviewed Journal]Copyright © 2018, Heim et al. This work is published under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright © 2018, Heim et al. 2018 Heim et al. ;ISSN: 2168-8184 ;EISSN: 2168-8184 ;DOI: 10.7759/cureus.3607 ;PMID: 30680268Full text available |
|
8 |
Material Type: Book
|
Atlas of Genetic Diagnosis and CounselingISBN: 1588296814 ;ISBN: 9781588296818 ;EISBN: 9781603271615 ;EISBN: 1603271619 ;DOI: 10.1007/978-1-60327-161-5 ;OCLC: 191069868 ;OCLC: 1066180809Digital Resources/Online E-Resources |
|
9 |
Material Type: Article
|
Contact endoscopic findings in hereditary hemorrhagic telangiectasiaHead & neck, 2006-01, Vol.28 (1), p.56-63 [Peer Reviewed Journal]Copyright © 2005 Wiley Periodicals, Inc. ;2006 INIST-CNRS ;(c) 2005 Wiley Periodicals, Inc. Head Neck 27: XXX-XXX, 2005. ;ISSN: 1043-3074 ;EISSN: 1097-0347 ;DOI: 10.1002/hed.20300 ;PMID: 16302189Full text available |
|
10 |
Material Type: Article
|
Transporting babies with known heart disease; who, what and where?Archives of disease in childhood. Fetal and neonatal edition, 2007-03, Vol.92 (2), p.F80-F81 [Peer Reviewed Journal]Copyright 2007 Archives of Disease in Childhood ;Copyright: 2007 Copyright 2007 Archives of Disease in Childhood ;Copyright ©2007 BMJ Publishing Group & Royal College of Paediatrics and Child Health ;ISSN: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/adc.2006.101626 ;PMID: 17337670Full text available |
|
11 |
Material Type: Article
|
The role of liver transplantation in the treatment of hereditary hemorrhagic telangiectasia: a short literature reviewTransplantation proceedings, 2007-07, Vol.39 (6), p.2045 [Peer Reviewed Journal]ISSN: 0041-1345 ;EISSN: 1873-2623 ;DOI: 10.1016/j.transproceed.2007.05.022 ;PMID: 17692689Digital Resources/Online E-Resources |
|
12 |
Material Type: Article
|
Prenatal and neonatal testingClinical chemistry and laboratory medicine, 2023-05, Vol.61 (s1), p.s1961 [Peer Reviewed Journal]EISSN: 1437-4331 ;DOI: 10.1515/cclm-2023-7060 ;PMID: 37037572Digital Resources/Online E-Resources |
|
13 |
Material Type: Article
|
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive UpdateJournal of clinical medicine, 2020-04, Vol.9 (4), p.1096 [Peer Reviewed Journal]2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 by the authors. 2020 ;ISSN: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm9041096 ;PMID: 32290556Full text available |
|
14 |
Material Type: Article
|
Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patientsJournal of clinical laboratory analysis, 2024-01, Vol.38 (1-2), p.e24997-n/a [Peer Reviewed Journal]2023 The Authors. published by Wiley Periodicals LLC. ;2023 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0887-8013 ;EISSN: 1098-2825 ;DOI: 10.1002/jcla.24997 ;PMID: 38115218Full text available |
|
15 |
Material Type: Article
|
Turner syndrome: mechanisms and managementNature reviews. Endocrinology, 2019-10, Vol.15 (10), p.601-614 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2019 ;ISSN: 1759-5029 ;EISSN: 1759-5037 ;DOI: 10.1038/s41574-019-0224-4 ;PMID: 31213699Full text available |
|
16 |
Material Type: Article
|
Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication useGenetics in medicine, 2020-09, Vol.22 (9), p.1542-1551 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2020. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-0837-y ;PMID: 32475987Full text available |
|
17 |
Material Type: Article
|
Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patientsChromosoma, 2022-12, Vol.131 (4), p.225-237 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;ISSN: 0009-5915 ;EISSN: 1432-0886 ;DOI: 10.1007/s00412-022-00782-3Full text available |
|
18 |
Material Type: Article
|
High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous populationArchives of gynecology and obstetrics, 2022-06, Vol.305 (6), p.1393-1408 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 ;2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021. ;ISSN: 1432-0711 ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-021-06235-z ;PMID: 34542677Full text available |
|
19 |
Material Type: Article
|
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndromePLoS genetics, 2018-10, Vol.14 (10), p.e1007692-e1007692 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;2018 Corbitt et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2018 Corbitt et al 2018 Corbitt et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007692 ;PMID: 30281655Full text available |
|
20 |
Material Type: Article
|
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in BrazilScientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184 [Peer Reviewed Journal]The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2022 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-19274-6 ;PMID: 36071085Full text available |