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Peer-reviewed Journals (256)

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1	Material Type: Article	C.E. Credit. Kabuki Syndrome and Its Oral Manifestations: A Case Report Journal of the California Dental Association, 2023-12, Vol.51 (1) [Peer Reviewed Journal] ISSN: 1942-4396 ;EISSN: 1942-4396 ;DOI: 10.1080/19424396.2023.2249028 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome Endocrine regulations (Bratislava), 2023-01, Vol.57 (1), p.128-137 [Peer Reviewed Journal] 2023 Evelina Maines et al., published by Sciendo. ;ISSN: 1336-0329 ;EISSN: 1336-0329 ;DOI: 10.2478/enr-2023-0016 ;PMID: 37285460 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	A case of Kabuki syndrome with immunodeficiency and symphalangism Sri Lanka journal of child health, 2020-06, Vol.49 (2), p.187 [Peer Reviewed Journal] ISSN: 1391-5452 ;EISSN: 2386-110X ;DOI: 10.4038/sljch.v49i2.8972 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemia Clinical endocrinology (Oxford), 2020, Vol.93 (3), p.346 [Peer Reviewed Journal] ISSN: 1365-2265 ;ISSN: 0300-0664 ;EISSN: 1365-2265 ;DOI: 10.1111/cen.14267 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene Frontiers in genetics, 2022-05, Vol.13 [Peer Reviewed Journal] Copyright © 2022 Sharkov, Sparber, Stepanova, Pyankov, Korostelev and Skoblov. 2022 Sharkov, Sparber, Stepanova, Pyankov, Korostelev and Skoblov ;ISSN: 1664-8021 ;EISSN: 1664-8021 ;DOI: 10.3389/fgene.2022.888481 ;PMID: 35711923 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study BMC pediatrics, 2024-02, Vol.24 (1), p.133-133 [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: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-024-04562-z ;PMID: 38373926 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	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
8	Material Type: Article	Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes American journal of human genetics, 2018-01, Vol.102 (1), p.156-174 [Peer Reviewed Journal] 2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.12.008 ;PMID: 29304373 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Nature genetics, 2010-09, Vol.42 (9), p.790-793 [Peer Reviewed Journal] 2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.646 ;PMID: 20711175 ;CODEN: NGENEC Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura Internal Medicine, 2021, pp.6694-20 [Peer Reviewed Journal] 2021 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.6694-20 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	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
12	Material Type: Article	Kidney and urinary tract findings among patients with Kabuki Pediatric nephrology (Berlin, West), 2021-12, Vol.36 (12) [Peer Reviewed Journal] COPYRIGHT 2021 Springer ;ISSN: 0931-041X ;EISSN: 1432-198X Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals Genetics in medicine, 2019-01, Vol.21 (1), p.233-242 [Peer Reviewed Journal] 2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0013-9 ;PMID: 29907798 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations Platelets (Edinburgh), 2023-12, Vol.34 (1), p.2249562-2249562 [Peer Reviewed Journal] ISSN: 0953-7104 ;EISSN: 1369-1635 ;DOI: 10.1080/09537104.2023.2249562 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Human mutation, 2016-09, Vol.37 (9), p.847-864 [Peer Reviewed Journal] 2016 WILEY PERIODICALS, INC. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.23026 ;PMID: 27302555 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38131 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	KDM6A Point Mutations Cause Kabuki Syndrome Human mutation, 2013-01, Vol.34 (1), p.108-110 [Peer Reviewed Journal] 2012 Wiley Periodicals, Inc. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.22229 ;PMID: 23076834 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Enhancer deregulation in cancer and other diseases BioEssays, 2016-10, Vol.38 (10), p.1003-1015 [Peer Reviewed Journal] 2016 WILEY Periodicals, Inc. ;ISSN: 0265-9247 ;EISSN: 1521-1878 ;DOI: 10.1002/bies.201600106 ;PMID: 27570183 ;CODEN: BIOEEJ Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome American journal of human genetics, 2022-10, Vol.109 (10), p.1867-1884 [Peer Reviewed Journal] 2022 The Authors ;Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved. ;2022 The Authors 2022 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2022.08.014 ;PMID: 36130591 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome Nature genetics, 2020-12, Vol.52 (12), p.1397-1411 [Peer Reviewed Journal] COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-00724-8 ;PMID: 33169020 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 292 for All Library Resources

ISSN: 1942-4396 ;EISSN: 1942-4396 ;DOI: 10.1080/19424396.2023.2249028

2023 Evelina Maines et al., published by Sciendo. ;ISSN: 1336-0329 ;EISSN: 1336-0329 ;DOI: 10.2478/enr-2023-0016 ;PMID: 37285460

ISSN: 1391-5452 ;EISSN: 2386-110X ;DOI: 10.4038/sljch.v49i2.8972

ISSN: 1365-2265 ;ISSN: 0300-0664 ;EISSN: 1365-2265 ;DOI: 10.1111/cen.14267

Copyright © 2022 Sharkov, Sparber, Stepanova, Pyankov, Korostelev and Skoblov. 2022 Sharkov, Sparber, Stepanova, Pyankov, Korostelev and Skoblov ;ISSN: 1664-8021 ;EISSN: 1664-8021 ;DOI: 10.3389/fgene.2022.888481 ;PMID: 35711923

2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.646 ;PMID: 20711175 ;CODEN: NGENEC

2021 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.6694-20

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

COPYRIGHT 2021 Springer ;ISSN: 0931-041X ;EISSN: 1432-198X

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0013-9 ;PMID: 29907798

ISSN: 0953-7104 ;EISSN: 1369-1635 ;DOI: 10.1080/09537104.2023.2249562

2016 WILEY PERIODICALS, INC. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.23026 ;PMID: 27302555

ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38131

2012 Wiley Periodicals, Inc. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.22229 ;PMID: 23076834

2016 WILEY Periodicals, Inc. ;ISSN: 0265-9247 ;EISSN: 1521-1878 ;DOI: 10.1002/bies.201600106 ;PMID: 27570183 ;CODEN: BIOEEJ

2022 The Authors ;Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved. ;2022 The Authors 2022 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2022.08.014 ;PMID: 36130591

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-00724-8 ;PMID: 33169020

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