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Results 1 - 20 of 204  for All Library Resources

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1
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
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Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Molecular 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: 33573679

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2
Clinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University Hospital
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Clinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University Hospital

Journal of pediatric ophthalmology and strabismus, 2023-12, Vol.61 (3), p.1-10 [Peer Reviewed Journal]

COPYRIGHT 2023 Slack, Inc. ;Copyright 2023, SLACK Incorporated ;Copyright 2024, SLACK Incorporated ;ISSN: 0191-3913 ;ISSN: 0022-0124 ;EISSN: 1938-2405 ;EISSN: 1938-2472 ;DOI: 10.3928/01913913-20231026-04 ;PMID: 38112386

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3
Venous Tortuosity in COL4A2 -Associated Gould Syndrome
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Venous Tortuosity in COL4A2 -Associated Gould Syndrome

Ophthalmic 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: 10.3928/23258160-20230811-01

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4
Goltz Syndrome Combined with Triple X Syndrome, a Case Report
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Goltz Syndrome Combined with Triple X Syndrome, a Case Report

The 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: 36443947

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5
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan

Pakistan 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: 33437285

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6
Highlights from this issue
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Article
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Highlights from this issue

British 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: BJOPAL

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7
Non-human Papillomavirus Cervical Mucinous Adenocarcinoma in a Phenotypic Male with Congenital Adrenal Hyperplasia
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Non-human Papillomavirus Cervical Mucinous Adenocarcinoma in a Phenotypic Male with Congenital Adrenal Hyperplasia

Curēus (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: 30680268

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8
Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature
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Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature

Fetal diagnosis and therapy, 2010-03, Vol.27 (2), p.113-117 [Peer Reviewed Journal]

2010 S. Karger AG, Basel ;2015 INIST-CNRS ;2010 S. Karger AG, Basel. ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000284929 ;PMID: 20160426

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9
Transition From Adolescence to Early Adulthood: Adaptation and Psychiatric Status of Women With 47,XXX
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Transition From Adolescence to Early Adulthood: Adaptation and Psychiatric Status of Women With 47,XXX

Journal of the American Academy of Child and Adolescent Psychiatry, 1998-03, Vol.37 (3), p.286-291 [Peer Reviewed Journal]

1998 The American Academy of Child and Adolescent Psychiatry ;1998 INIST-CNRS ;Copyright Lippincott Williams & Wilkins Mar 1998 ;ISSN: 0890-8567 ;EISSN: 1527-5418 ;DOI: 10.1097/00004583-199803000-00013 ;PMID: 9519633 ;CODEN: JAAPEE

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10
Turner syndrome: mechanisms and management
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Article
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Turner syndrome: mechanisms and management

Nature 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: 31213699

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11
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
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Article
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Scientific 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: 36071085

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12
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Disease models & mechanisms, 2017-08, Vol.10 (8), p.955-970 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;2017. This work is licensed 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. ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.028365 ;PMID: 28768736

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13
The role of liver transplantation in the treatment of hereditary hemorrhagic telangiectasia: a short literature review
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Article
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The role of liver transplantation in the treatment of hereditary hemorrhagic telangiectasia: a short literature review

Transplantation 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: 17692689

Digital Resources/Online E-Resources

14
Transporting babies with known heart disease; who, what and where?
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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: 17337670

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15
Prenatal and neonatal testing
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Article
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Prenatal and neonatal testing

Clinical chemistry and laboratory medicine, 2023-05, Vol.61 (s1), p.s1961 [Peer Reviewed Journal]

EISSN: 1437-4331 ;DOI: 10.1515/cclm-2023-7060 ;PMID: 37037572

Digital Resources/Online E-Resources

16
Cardiovascular outcomes of pregnancy in Turner syndrome
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Cardiovascular outcomes of pregnancy in Turner syndrome

Heart (British Cardiac Society), 2021-01, Vol.107 (1), p.61-66 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2020-316719 ;PMID: 32669396

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17
Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use
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Article
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Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use

Genetics 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: 32475987

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18
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome
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TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

PLoS 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: 30281655

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19
The Safety of Second-Generation Antipsychotics During Pregnancy: A Clinically Focused Review
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The Safety of Second-Generation Antipsychotics During Pregnancy: A Clinically Focused Review

CNS drugs, 2018-04, Vol.32 (4), p.351-366 [Peer Reviewed Journal]

Springer International Publishing AG, part of Springer Nature 2018 ;Copyright Springer Science & Business Media Apr 2018 ;ISSN: 1172-7047 ;EISSN: 1179-1934 ;DOI: 10.1007/s40263-018-0517-5 ;PMID: 29637530

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20
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Genetics in medicine, 2021-04, Vol.23 (4), p.679-688 [Peer Reviewed Journal]

2021 The Author(s) ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-01052-2 ;PMID: 33442026

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