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Peer-reviewed Journals (33)

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1	Material Type: Article	Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations The New England journal of medicine, 2016-05, Vol.374 (19), p.1853-1863 [Peer Reviewed Journal] Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1507629 ;PMID: 27120771 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation BMC pediatrics, 2024-05, Vol.24 (1), p.305-305 [Peer Reviewed Journal] 2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. 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. ;ISSN: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-024-04788-x ;PMID: 38704545 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant Journal of obstetrics and gynaecology, 2019-04, Vol.39 (3), p.395-397 [Peer Reviewed Journal] ISSN: 0144-3615 ;EISSN: 1364-6893 ;DOI: 10.1080/01443615.2018.1454415 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios BMC medical genomics, 2022-03, Vol.15 (1), p.73-73, Article 73 [Peer Reviewed Journal] 2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. 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) 2022 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-022-01224-w ;PMID: 35354480 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Amniotic Aaquaporins (AQP) in Normal and Pathological Pregnancies: Interest in Polyhydramnios Reproductive sciences (Thousand Oaks, Calif.), 2021-10, Vol.28 (10), p.2929-2938 [Peer Reviewed Journal] Society for Reproductive Investigation 2021 ;2021. Society for Reproductive Investigation. ;ISSN: 1933-7191 ;EISSN: 1933-7205 ;DOI: 10.1007/s43032-021-00677-1 ;PMID: 34254277 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Polyhydramnios associated with rare genetic syndromes: two case reports Journal of medical case reports, 2024-02, Vol.18 (1), p.97-97 [Peer Reviewed Journal] 2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. 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) 2024 ;ISSN: 1752-1947 ;EISSN: 1752-1947 ;DOI: 10.1186/s13256-024-04435-0 ;PMID: 38369506 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation Pediatric nephrology (Berlin, West), 2016-10, Vol.31 (10), p.1705-1708 [Peer Reviewed Journal] IPNA 2016 ;COPYRIGHT 2016 Springer ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s00467-016-3421-6 ;PMID: 27286685 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Amniotic fluid biochemistry in isolated polyhydramnios: a series of 464 cases Prenatal diagnosis, 2015-12, Vol.35 (13), p.1331-1335 [Peer Reviewed Journal] 2015 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4700 ;PMID: 26426702 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios Molecular genetics & genomic medicine, 2023-01, Vol.11 (1), p.e2089-n/a [Peer Reviewed Journal] 2022 The Authors. published by Wiley Periodicals LLC. ;2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. 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: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2089 ;PMID: 36398477 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2181-2185 [Peer Reviewed Journal] 2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37727 ;PMID: 27170158 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	MAGE-D2 and the Regulation of Renal Salt Transporters The New England journal of medicine, 2016-05, Vol.374 (19), p.1888-1890 [Peer Reviewed Journal] Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMe1603856 ;PMID: 27168439 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report Journal of medical case reports, 2019-11, Vol.13 (1), p.340-340, Article 340 [Peer Reviewed Journal] COPYRIGHT 2019 BioMed Central Ltd. ;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: 1752-1947 ;EISSN: 1752-1947 ;DOI: 10.1186/s13256-019-2298-y ;PMID: 31753000 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.862-865 [Peer Reviewed Journal] 2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37013 ;PMID: 25706929 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Severe neonatal manifestations of Costello syndrome Journal of medical genetics, 2008-03, Vol.45 (3), p.167-171 [Peer Reviewed Journal] 2008 BMJ Publishing Group ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2007.054411 ;PMID: 18039947 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1265-n/a [Peer Reviewed Journal] 2020 The Authors. published by Wiley Periodicals LLC ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2020. 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: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1265 ;PMID: 32400031 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction Taiwanese journal of obstetrics & gynecology, 2016-06, Vol.55 (3), p.415-418 [Peer Reviewed Journal] 2016 ;ISSN: 1028-4559 ;DOI: 10.1016/j.tjog.2016.05.001 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion American journal of medical genetics. Part A, 2013-03, Vol.161 (3), p.594-599 [Peer Reviewed Journal] Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35716 ;PMID: 23401208 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Aquaporins in ovine amnion: responses to altered amniotic fluid volumes and intramembranous absorption rates Physiological reports, 2016-07, Vol.4 (14), p.np-n/a [Peer Reviewed Journal] 2016 The Authors. published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society. ;2016 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society. ;2016. 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: 2051-817X ;EISSN: 2051-817X ;DOI: 10.14814/phy2.12868 ;PMID: 27440743 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.779-784 [Peer Reviewed Journal] Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32778 ;PMID: 19288554 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.785-787 [Peer Reviewed Journal] Copyright © 2008 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32335 ;PMID: 18642361 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 34 for All Library Resources

Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1507629 ;PMID: 27120771

ISSN: 0144-3615 ;EISSN: 1364-6893 ;DOI: 10.1080/01443615.2018.1454415

Society for Reproductive Investigation 2021 ;2021. Society for Reproductive Investigation. ;ISSN: 1933-7191 ;EISSN: 1933-7205 ;DOI: 10.1007/s43032-021-00677-1 ;PMID: 34254277

IPNA 2016 ;COPYRIGHT 2016 Springer ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s00467-016-3421-6 ;PMID: 27286685

2015 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4700 ;PMID: 26426702

2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37727 ;PMID: 27170158

Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMe1603856 ;PMID: 27168439

2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37013 ;PMID: 25706929

2008 BMJ Publishing Group ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2007.054411 ;PMID: 18039947 ;CODEN: JMDGAE

2016 ;ISSN: 1028-4559 ;DOI: 10.1016/j.tjog.2016.05.001

Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35716 ;PMID: 23401208

Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32778 ;PMID: 19288554

Copyright © 2008 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32335 ;PMID: 18642361

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