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Material Type: Article
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10-Year Overview of the Hospital-Based Prevalence and Treatment of Congenital Cataracts: The CCPMOH ExperiencePloS one, 2015-11, Vol.10 (11), p.e0142298-e0142298 [Peer Reviewed Journal]2015 Lin 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. ;2015 Lin et al 2015 Lin et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0142298 ;PMID: 26540510Full text available |
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Material Type: Article
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10p Duplication characterized by fluorescence in situ hybridizationAmerican journal of medical genetics, 1994-09, Vol.52 (3), p.315-318 [Peer Reviewed Journal]Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company ;1994 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1320520312 ;PMID: 7528972 ;CODEN: AJMGDAFull text available |
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Material Type: Article
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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsEuropean journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1216-1223 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.127 ;PMID: 22739344Full text available |
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Material Type: Article
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2009 H1N1 influenza A in children: a descriptive clinical studyAnnals of Saudi medicine, 2012-01, Vol.32 (1), p.59-63 [Peer Reviewed Journal]COPYRIGHT 2012 Medknow Publications and Media Pvt. Ltd. ;2012. This work is published under https://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. ;Copyright © 2012, Annals of Saudi Medicine 2012 ;ISSN: 0256-4947 ;EISSN: 0975-4466 ;DOI: 10.5144/0256-4947.2012.59 ;PMID: 22156647Full text available |
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Material Type: Article
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22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease managementAllergologia et immunopathologia, 2021-01, Vol.49 (1), p.95-100 [Peer Reviewed Journal]2021. This work is published under https://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: 0301-0546 ;EISSN: 1578-1267 ;DOI: 10.15586/aei.v49i1.24 ;PMID: 33528935Full text available |
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Material Type: Article
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3D-manufactured patient-specific models of congenital heart defects for communication in clinical practice: feasibility and acceptabilityBMJ open, 2015-04, Vol.5 (4), p.e007165-e007165 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions 2015 This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: 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. ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions 2015 ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2014-007165 ;PMID: 25933810Full text available |
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Material Type: Article
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4D MUSIC CMR: value-based imaging of neonates and infants with congenital heart diseaseJournal of cardiovascular magnetic resonance, 2017-04, Vol.19 (1), p.40-40, Article 40 [Peer Reviewed Journal]Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1532-429X ;ISSN: 1097-6647 ;EISSN: 1532-429X ;DOI: 10.1186/s12968-017-0352-8 ;PMID: 28366171Full text available |
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Material Type: Article
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8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?Journal of medical genetics, 2002-10, Vol.39 (10), p.769-774 [Peer Reviewed Journal]Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.10.769 ;PMID: 12362038 ;CODEN: JMDGAEFull text available |
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Material Type: Article
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A 10‐year prevalence of congenital hypothyroidism in Khorramabad (Urban Western Iran)Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e817-n/a [Peer Reviewed Journal]2019 The Authors. published by Wiley Periodicals, Inc. ;2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;2019. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.817 ;PMID: 31215165Full text available |
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10 |
Material Type: Article
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International EffortJournal of neuromuscular diseases, 2022-01, Vol.9 (1), p.193-210 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 2214-3599 ;EISSN: 2214-3602 ;DOI: 10.3233/JND-210652 ;PMID: 34602496Digital Resources/Online E-Resources |
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11 |
Material Type: Article
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Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosomeAmerican journal of medical genetics, 1994-09, Vol.52 (3), p.339-345 [Peer Reviewed Journal]Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company ;1994 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1320520317 ;PMID: 7810566 ;CODEN: AJMGDAFull text available |
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Material Type: Article
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AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trialThe Lancet (British edition), 2024-05, Vol.403 (10441), p.2317-2325 [Peer Reviewed Journal]2024 Elsevier Ltd ;Copyright © 2024 Elsevier Ltd. All rights reserved. ;2024. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(23)02874-X ;PMID: 38280389Digital Resources/Online E-Resources |
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Material Type: Article
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ABC of Urology: COMMON PAEDIATRIC PROBLEMSBMJ, 1996-05, Vol.312 (7041), p.1291-1294 [Peer Reviewed Journal]1996 BMJ Publishing Group Ltd. ;Copyright: 1996 (c) 1996 BMJ Publishing Group Ltd. ;ISSN: 0959-8138 ;EISSN: 1468-5833 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.312.7041.1291 ;PMID: 8634623Full text available |
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Material Type: Article
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Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1Journal of pediatric gastroenterology and nutrition, 2001-08, Vol.33 (2), p.149 [Peer Reviewed Journal]ISSN: 0277-2116 ;EISSN: 1536-4801 ;DOI: 10.1097/00005176-200108000-00010 ;PMID: 11568515Digital Resources/Online E-Resources |
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15 |
Material Type: Article
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Abnormalities of Maxillary Anterior Teeth in Chinese Children with Cleft Lip and PalateThe Cleft palate-craniofacial journal, 2009-01, Vol.46 (1), p.58-64 [Peer Reviewed Journal]2009 American Cleft Palate-Craniofacial Association ;2009 INIST-CNRS ;Copyright Allen Press Publishing Services Jan 2009 ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;DOI: 10.1597/07-077.1 ;PMID: 19115788 ;CODEN: CPJOEGFull text available |
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Material Type: Article
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Absence of DNA Repair Deficiency in the Confirmed Heterozygotes of Xeroderma Pigmentosum Group AJournal of investigative dermatology, 1993-07, Vol.101 (1), p.69-72 [Peer Reviewed Journal]1993 The Society for Investigative Dermatology, Inc ;1993 INIST-CNRS ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1111/1523-1747.ep12360046 ;PMID: 8101209 ;CODEN: JIDEAEFull text available |
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17 |
Material Type: Article
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Absence of induction of enhanced reactivation of herpes simplex virus in cells from Xeroderma pigmentosum patients without skin cancerCancer research (Chicago, Ill.), 1988-11, Vol.48 (21), p.6054-6057 [Peer Reviewed Journal]1989 INIST-CNRS ;ISSN: 0008-5472 ;EISSN: 1538-7445 ;PMID: 2844398 ;CODEN: CNREA8Full text available |
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18 |
Material Type: Article
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Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patientsAmerican journal of medical genetics. Part A, 2003-04, Vol.118A (3), p.299-301 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.10057 ;PMID: 12673665Full text available |
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19 |
Material Type: Article
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Accessory mitral leaflet: an uncommon form of subaortic stenosisRevista brasileira de cirurgia cardiovascular, 2012, Vol.27 (3), p.4772012. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0102-7638 ;EISSN: 1678-9741 ;DOI: 10.5935/1678-9741.20120080 ;PMID: 23288193Full text available |
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Material Type: Article
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Accuracy of Zika virus disease case definition during simultaneous Dengue and Chikungunya epidemicsPloS one, 2017-06, Vol.12 (6), p.e0179725-e0179725 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Braga 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. ;2017 Braga et al 2017 Braga et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0179725 ;PMID: 28650987Full text available |