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subject: Genetic Disorders

Result Number	Material Type	Record Details and Options
1	Material Type: Article	Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy The Journal of clinical investigation, 2018-04, Vol.128 (4), p.1496-1508 [Peer Reviewed Journal] COPYRIGHT 2018 American Society for Clinical Investigation ;COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Apr 2018 ;Copyright © 2018 Al-Olabi et al. 2018 Al-Olabi et al. ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci98589 ;PMID: 29461977 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	A human multi-lineage hepatic organoid model for liver fibrosis Nature communications, 2021-10, Vol.12 (1), p.6138-6138, Article 6138 [Peer Reviewed Journal] The Author(s) 2021. 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) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-021-26410-9 ;PMID: 34686668 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort Genome Biology, 2016-11, Vol.17 (1), p.243-243, Article 243 [Peer Reviewed Journal] 2016. 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). 2016 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-016-1105-y ;PMID: 27899157 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.164-164, Article 164 [Peer Reviewed Journal] COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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. ;info:eu-repo/semantics/openAccess ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01362-3 ;PMID: 32586397 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease The Journal of clinical investigation, 2020-01, Vol.130 (1), p.507-522 [Peer Reviewed Journal] COPYRIGHT 2020 American Society for Clinical Investigation ;COPYRIGHT 2020 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jan 2020 ;2020 American Society for Clinical Investigation 2020 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI131116 ;PMID: 31714901 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Abstract 11: Clinical phenotype, prevalence of congenital anomalies and autoimmune conditions in patients with turner syndrome Indian journal of endocrinology and metabolism, 2022-12, Vol.26 (8), p.5-5 [Peer Reviewed Journal] COPYRIGHT 2022 Medknow Publications and Media Pvt. Ltd. ;2022. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2230-8210 ;EISSN: 2230-9500 ;DOI: 10.4103/2230-8210.363612 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Genetic basis of human congenital anomalies of the kidney and urinary tract The Journal of clinical investigation, 2018-01, Vol.128 (1), p.4-15 [Peer Reviewed Journal] COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jan 2018 ;Copyright © 2018, American Society for Clinical Investigation 2018 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci95300 ;PMID: 29293093 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	JCS/JHRS 2019 guideline on non‐pharmacotherapy of cardiac arrhythmias Journal of arrhythmia, 2021-08, Vol.37 (4), p.709-870 [Peer Reviewed Journal] 2021 The Japanese Circulation Society; The Japanese Heart Rhythm Society. Published by The Japanese Circulation Society and John Wiley and Sons Australia, Ltd. ;COPYRIGHT 2021 John Wiley & Sons, Inc. ;2021. This work is published under http://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: 1880-4276 ;EISSN: 1883-2148 ;DOI: 10.1002/joa3.12491 ;PMID: 34386109 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-306, Article 306 [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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-01929-8 ;PMID: 34238334 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Guidelines for diagnosis and management of congenital central hypoventilation syndrome Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.252-252, Article 252 [Peer Reviewed Journal] COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01460-2 ;PMID: 32958024 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Congenital myasthenic syndromes Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.57-57, Article 57 [Peer Reviewed Journal] COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1025-5 ;PMID: 30808424 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function The Journal of clinical investigation, 2021-04, Vol.131 (7), p.1-16 [Peer Reviewed Journal] COPYRIGHT 2021 American Society for Clinical Investigation ;COPYRIGHT 2021 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Apr 2021 ;2021 American Society for Clinical Investigation 2021 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci143988 ;PMID: 33591954 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Defining the syndrome associated with congenital Zika virus infection Bulletin of the World Health Organization, 2016-06, Vol.94 (6), p.406-406A [Peer Reviewed Journal] COPYRIGHT 2016 World Health Organization ;COPYRIGHT 2016 World Health Organization ;Copyright World Health Organization Jun 2016 ;(c) 2016 The authors; licensee World Health Organization. 2016 ;ISSN: 0042-9686 ;EISSN: 1564-0604 ;DOI: 10.2471/BLT.16.176990 ;PMID: 27274588 ;CODEN: BWHOA6 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients PloS one, 2013-01, Vol.8 (1), p.e54404 [Peer Reviewed Journal] COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Wu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://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. ;2013 Wu et al 2013 Wu et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0054404 ;PMID: 23342150 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder Genome medicine, 2018-09, Vol.10 (1), p.74-74, Article 74 [Peer Reviewed Journal] COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. 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). 2018 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-018-0582-x ;PMID: 30266093 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	The association between Zika virus infection and microcephaly in Brazil 2015-2017: An observational analysis of over 4 million births PLoS medicine, 2019-03, Vol.16 (3), p.e1002755-e1002755 [Peer Reviewed Journal] COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Brady 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. ;2019 Brady et al 2019 Brady et al ;ISSN: 1549-1676 ;ISSN: 1549-1277 ;EISSN: 1549-1676 ;DOI: 10.1371/journal.pmed.1002755 ;PMID: 30835728 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation Scientific reports, 2023-10, Vol.13 (1), p.17648-17648, Article 17648 [Peer Reviewed Journal] The Author(s) 2023. 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. ;Springer Nature Limited 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-42178-y ;PMID: 37848450 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation PloS one, 2016-02, Vol.11 (2), p.e0150104-e0150104 [Peer Reviewed Journal] COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Arruda 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. ;2016 Arruda et al 2016 Arruda et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0150104 ;PMID: 26909691 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells The Journal of clinical investigation, 2020-02, Vol.130 (2), p.641-654 [Peer Reviewed Journal] COPYRIGHT 2020 American Society for Clinical Investigation ;COPYRIGHT 2020 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Feb 2020 ;2020 American Society for Clinical Investigation 2020 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI127378 ;PMID: 31845906 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	The clinical manifestations, molecular mechanisms and treatment of craniosynostosis Disease models & mechanisms, 2022-04, Vol.15 (4) [Peer Reviewed Journal] 2022. Published by The Company of Biologists Ltd. ;2022. This work is licensed under https://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. ;2022. Published by The Company of Biologists Ltd 2022 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.049390 ;PMID: 35451466 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by