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1	Material Type: Article	Kabuki syndrome: international consensus diagnostic criteria Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105625 ;PMID: 30514738 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 Genetics in medicine, 2013-11, Vol.15 (11), p.901-909 [Peer Reviewed Journal] 2013 The Author(s) ;American College of Medical Genetics and Genomics 2013. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2013.129 ;PMID: 24071793 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions American journal of human genetics, 2017-05, Vol.100 (5), p.773-788 [Peer Reviewed Journal] 2017 The Author(s) ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.04.004 ;PMID: 28475860 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator Clinical genetics, 2017-08, Vol.92 (2), p.166 [Peer Reviewed Journal] 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12948 ;PMID: 27925162 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
5	Material Type: Article	De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Human molecular genetics, 2019-09, Vol.28 (17), p.2937-2951 [Peer Reviewed Journal] The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2019 ;The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddz117 ;PMID: 31152168 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	A 1-Day-Old Girl With Infantile Hemangioma and Sternal Cleft Chest, 2024-05, Vol.165 (5), p.e137-e142 [Peer Reviewed Journal] 2023 American College of Chest Physicians ;Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved. ;ISSN: 0012-3692 ;EISSN: 1931-3543 ;DOI: 10.1016/j.chest.2023.12.010 ;PMID: 38724152 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
7	Material Type: Article	Jansen-de Vries syndrome. First case diagnosed in Spain Neurología (Barcelona, English ed. ), 2021-05, Vol.36 (4), p.330-332 [Peer Reviewed Journal] 2020 Sociedad Española de Neurología ;ISSN: 2173-5808 ;EISSN: 2173-5808 ;DOI: 10.1016/j.nrleng.2020.06.005 ;PMID: 32919790 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants Genetics in medicine, 2011-07, Vol.13 (7), p.680-685 [Peer Reviewed Journal] 2011 The Author(s) ;The American College of Medical Genetics 2011. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1097/GIM.0b013e3182217a3a ;PMID: 21681106 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Echidna Splenule: A Case Study of Continuous Splenogonadal Fusion Urology (Ridgewood, N.J.), 2024-01, Vol.183, p.209 [Peer Reviewed Journal] Copyright © 2023 Elsevier Inc. All rights reserved. ;EISSN: 1527-9995 ;DOI: 10.1016/j.urology.2023.09.009 ;PMID: 37774850 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
10	Material Type: Article	BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes Nature communications, 2018-11, Vol.9 (1), p.4885-15, Article 4885 [Peer Reviewed Journal] 2018. 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) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-07193-y ;PMID: 30459321 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Standardized reporting for congenital diaphragmatic hernia--an international consensus Journal of pediatric surgery, 2013-12, Vol.48 (12), p.2408 [Peer Reviewed Journal] 2013. ;EISSN: 1531-5037 ;DOI: 10.1016/j.jpedsurg.2013.08.014 ;PMID: 24314179 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
12	Material Type: Article	First Case of a Term Male Born with Aphallia and Complete Urethral Atresia Urology (Ridgewood, N.J.), 2021-10, Vol.156, p.e127 [Peer Reviewed Journal] Published by Elsevier Inc. ;EISSN: 1527-9995 ;DOI: 10.1016/j.urology.2021.05.038 ;PMID: 34087315 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
13	Material Type: Article	Identification of fetal female internal genitalia as clue to prenatal diagnosis of urorectal septum malformation sequence Ultrasound in obstetrics & gynecology, 2023-12, Vol.62 (6), p.909 [Peer Reviewed Journal] EISSN: 1469-0705 ;DOI: 10.1002/uog.26216 ;PMID: 37058364 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
14	Material Type: Article	Urethral Duplication With clitoral Voiding: A Rare Presentation Urology (Ridgewood, N.J.), 2020-07, Vol.141, p.e5 [Peer Reviewed Journal] Copyright © 2020. Published by Elsevier Inc. ;EISSN: 1527-9995 ;DOI: 10.1016/j.urology.2020.04.063 ;PMID: 32333989 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
15	Material Type: Article	Genotype-phenotype correlates in Joubert syndrome: A review American journal of medical genetics. Part C, Seminars in medical genetics, 2022-03, Vol.190 (1), p.72 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31963 ;PMID: 35238134 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
16	Material Type: Article	Natural history of KBG syndrome in a large European cohort Human molecular genetics, 2022-12, Vol.31 (24), p.4131-4142 [Peer Reviewed Journal] The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2022 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddac167 ;PMID: 35861666 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center Genetics in medicine, 2017-08, Vol.19 (8), p.875-882 [Peer Reviewed Journal] Copyright Nature Publishing Group Aug 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.204 ;PMID: 28125082 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome Genetics in medicine, 2018-02, Vol.20 (2), p.190-201 [Peer Reviewed Journal] Copyright Nature Publishing Group Feb 2018 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.71 ;PMID: 28771254 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.652-659 [Peer Reviewed Journal] Copyright Nature Publishing Group May 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.178 ;PMID: 26306646 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate American journal of human genetics, 2016-04, Vol.98 (4), p.755-762 [Peer Reviewed Journal] 2016 The American Society of Human Genetics ;Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 7, 2016 ;2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.02.013 ;PMID: 27018475 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 7,715 for All Library Resources

2013 The Author(s) ;American College of Medical Genetics and Genomics 2013. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2013.129 ;PMID: 24071793

2017 The Author(s) ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.04.004 ;PMID: 28475860

2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12948 ;PMID: 27925162

2023 American College of Chest Physicians ;Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved. ;ISSN: 0012-3692 ;EISSN: 1931-3543 ;DOI: 10.1016/j.chest.2023.12.010 ;PMID: 38724152

2020 Sociedad Española de Neurología ;ISSN: 2173-5808 ;EISSN: 2173-5808 ;DOI: 10.1016/j.nrleng.2020.06.005 ;PMID: 32919790

2011 The Author(s) ;The American College of Medical Genetics 2011. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1097/GIM.0b013e3182217a3a ;PMID: 21681106

Copyright © 2023 Elsevier Inc. All rights reserved. ;EISSN: 1527-9995 ;DOI: 10.1016/j.urology.2023.09.009 ;PMID: 37774850

2013. ;EISSN: 1531-5037 ;DOI: 10.1016/j.jpedsurg.2013.08.014 ;PMID: 24314179

Published by Elsevier Inc. ;EISSN: 1527-9995 ;DOI: 10.1016/j.urology.2021.05.038 ;PMID: 34087315

EISSN: 1469-0705 ;DOI: 10.1002/uog.26216 ;PMID: 37058364

Copyright © 2020. Published by Elsevier Inc. ;EISSN: 1527-9995 ;DOI: 10.1016/j.urology.2020.04.063 ;PMID: 32333989

2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31963 ;PMID: 35238134

Copyright Nature Publishing Group Aug 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.204 ;PMID: 28125082

Copyright Nature Publishing Group Feb 2018 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.71 ;PMID: 28771254

Copyright Nature Publishing Group May 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.178 ;PMID: 26306646

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