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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, 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: 38112386

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3
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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4
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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5
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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6
Goltz Syndrome Combined with Triple X Syndrome, a Case Report
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Article
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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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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
Atlas of Genetic Diagnosis and Counseling
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Book
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Atlas of Genetic Diagnosis and Counseling

ISBN: 1588296814 ;ISBN: 9781588296818 ;EISBN: 9781603271615 ;EISBN: 1603271619 ;DOI: 10.1007/978-1-60327-161-5 ;OCLC: 191069868 ;OCLC: 1066180809

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9
Contact endoscopic findings in hereditary hemorrhagic telangiectasia
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Article
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Contact endoscopic findings in hereditary hemorrhagic telangiectasia

Head & 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: 16302189

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10
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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11
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

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12
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

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13
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update
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Article
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Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update

Journal 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: 32290556

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14
Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients
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Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

Journal 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: 38115218

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15
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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16
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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17
Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients
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Article
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Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients

Chromosoma, 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/s00412-022-00782-3

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18
High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population
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Article
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High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population

Archives 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: 34542677

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19
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome
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Article
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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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20
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
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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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