Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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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 |
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Material Type: Article
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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 |
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Material Type: Article
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Congenital diaphragmatic hernias: from genes to mechanisms to therapiesDisease 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: 28768736Full text available |
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4 |
Material Type: Article
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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 |
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5 |
Material Type: Article
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SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartmentNature communications, 2015-12, Vol.6 (1), p.10004, Article 10004 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2015 ;Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms10004 ;PMID: 26643973Full text available |
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6 |
Material Type: Article
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Understanding the interaction between cytomegalovirus and tuberculosis in children: The way forwardPLoS pathogens, 2021-12, Vol.17 (12), p.e1010061-e1010061 [Peer Reviewed Journal]COPYRIGHT 2021 Public Library of Science ;2021 Olbrich 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. ;2021 Olbrich et al 2021 Olbrich et al ;ISSN: 1553-7374 ;ISSN: 1553-7366 ;EISSN: 1553-7374 ;DOI: 10.1371/journal.ppat.1010061 ;PMID: 34882748Full text available |
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7 |
Material Type: Article
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Gestational diabetes is associated with the risk of offspring’s congenital anomalies: a register-based cohort studyBMC pregnancy and childbirth, 2023-10, Vol.23 (1), p.1-708, Article 708 [Peer Reviewed Journal]2023. 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. ;BioMed Central Ltd., part of Springer Nature 2023 ;ISSN: 1471-2393 ;EISSN: 1471-2393 ;DOI: 10.1186/s12884-023-05996-6 ;PMID: 37789251Full text available |
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8 |
Material Type: Article
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesGenome medicine, 2019-05, Vol.11 (1), p.30-30, Article 30 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;2019. 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). 2019 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-019-0639-5 ;PMID: 31101064Full text available |
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9 |
Material Type: Article
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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 |
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10 |
Material Type: Article
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Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular InsightInternational journal of molecular sciences, 2021-10, Vol.22 (21), p.11495 [Peer Reviewed Journal]2021 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 (https://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. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms222111495 ;PMID: 34768925Full text available |
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11 |
Material Type: Article
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Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a ReviewGenes, 2021-05, Vol.12 (5), p.738 [Peer Reviewed Journal]2021 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 (https://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. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12050738 ;PMID: 34068396Full text available |
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12 |
Material Type: Article
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The Genomic Architecture of Bladder Exstrophy Epispadias ComplexGenes, 2021-07, Vol.12 (8), p.1149 [Peer Reviewed Journal]2021 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 (https://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. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12081149 ;PMID: 34440323Full text available |
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13 |
Material Type: Article
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart DiseaseGenes, 2022-06, Vol.13 (7), p.1172 [Peer Reviewed Journal]COPYRIGHT 2022 MDPI AG ;2022 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 (https://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. ;2022 by the authors. 2022 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes13071172 ;PMID: 35885957Full text available |
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14 |
Material Type: Article
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Rare within Rare: A Girl with Severe Haemophilia A and Turner SyndromeJournal of clinical medicine, 2023-11, Vol.12 (23), p.7437 [Peer Reviewed Journal]COPYRIGHT 2023 MDPI AG ;2023 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 (https://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. ;ISSN: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm12237437 ;PMID: 38068488Full text available |
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15 |
Material Type: Article
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Pulmonary placental transmogrification: a difficult pattern in differential diagnosis of pulmonary hamartomas from a tertiary care hospital in TurkeyJournal of cardiothoracic surgery, 2023-04, Vol.18 (1), p.127-127, Article 127 [Peer Reviewed Journal]2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1749-8090 ;EISSN: 1749-8090 ;DOI: 10.1186/s13019-023-02217-1 ;PMID: 37041644Full text available |
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16 |
Material Type: Article
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Aplastic Anemia in Triple X SyndromeChildren (Basel), 2023-01, Vol.10 (1), p.100 [Peer Reviewed Journal]2023 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 (https://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. ;2023 by the authors. 2023 ;ISSN: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children10010100 ;PMID: 36670650Full text available |
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17 |
Material Type: Article
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Organ Abnormalities Caused by Turner SyndromeCells (Basel, Switzerland), 2023-05, Vol.12 (10), p.1365 [Peer Reviewed Journal]COPYRIGHT 2023 MDPI AG ;2023 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 (https://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. ;2023 by the authors. 2023 ;ISSN: 2073-4409 ;EISSN: 2073-4409 ;DOI: 10.3390/cells12101365 ;PMID: 37408200Full text available |
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18 |
Material Type: Article
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Hydrometrocolpos in Infants: Etiologies and Clinical PresentationsChildren (Basel), 2022-02, Vol.9 (2), p.219 [Peer Reviewed Journal]2022 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 (https://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. ;2022 by the authors. 2022 ;ISSN: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children9020219 ;PMID: 35204939Full text available |
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19 |
Material Type: Article
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MicroRNA-4516 in Urinary Exosomes as a Biomarker of Premature Ovarian InsufficiencyCells (Basel, Switzerland), 2022-09, Vol.11 (18), p.2797 [Peer Reviewed Journal]COPYRIGHT 2022 MDPI AG ;2022 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 (https://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. ;2022 by the authors. 2022 ;ISSN: 2073-4409 ;EISSN: 2073-4409 ;DOI: 10.3390/cells11182797Full text available |
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20 |
Material Type: Article
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Ultrasound Assessment of Larynx and Trachea in the Neonatal Period, Examination Standard with Predictive Values-Study ProtocolDiagnostics (Basel), 2023-04, Vol.13 (9), p.1578 [Peer Reviewed Journal]COPYRIGHT 2023 MDPI AG ;2023 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 (https://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. ;2023 by the authors. 2023 ;ISSN: 2075-4418 ;EISSN: 2075-4418 ;DOI: 10.3390/diagnostics13091578 ;PMID: 37174969Full text available |