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文献信息
Human Mutation is a peer-reviewed journal that offers publication of original research & reviews on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered.The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
vol.2026 (2026)
vol.2025 (2025)
vol.2024 (2024)
vol.2023 (2023)
vol.43 (2022)
vol.42 (2021)
vol.41 (2020)
vol.40 (2019)
vol.39 (2018)
vol.38 (2017)
vol.37 (2016)
vol.36 (2015)
vol.35 (2014)
vol.34 (2013)
vol.33 (2012)
vol.32 (2011)
vol.31 (2010)
vol.30 (2009)
vol.29 (2008)
vol.28 (2007)
vol.27 (2006)
vol.26 (2005)
vol.25 (2005)
vol.24 (2004)
vol.23 (2004)
vol.22 (2003)
vol.21 (2003)
vol.20 (2002)
vol.19 (2002)
vol.18 (2001)
vol.17 (2001)
vol.16 (2000)
vol.15 (2000)
vol.14 (1999)
vol.13 (1999)
vol.12 (1998)
vol.11 (1998)
vol. (1998)
vol.10 (1997)
vol.9 (1997)
vol.8 (1996)
vol.7 (1996)
vol.6 (1995)
vol.5 (1995)
vol.4 (1994)
vol.3 (1994)
vol.2 (1993)
vol.1 (1992)
DATA ARTICLE
REVIEW
MUTATION UPDATE
DATABASES
INFORMATICS
RAPID COMMUNICATION
BRIEF REPORTS
Janssen, Beau D. E.van den Boogaard, Marie-Jose H.Lichtenbelt, KlaskeSeaby, Eleanor G.Stals, KarenEllard, SianNewbury-Ecob, RuthDixit, AbhijitRoht, LauraPajusalu, SanderOunap, KatrinFirth, Helen, VBuckley, MichaelWilson, MeredithRoscioli, TonyTidwell, TimothyMao, RongEnnis, SarahHolwerda, Sjoerd J.van Gassen, Koenvan Jaarsveld, Richard H.
de Winter, Josine M.Bouman, KarlijnStrom, JoshuaMethawasin, MeiJongbloed, Jan D. H.van der Roest, Wilmavan Wijngaarden, JanTimmermans, JannekeNijveldt, Robinvan den Heuvel, FrederikKamsteeg, Erik-Janvan Engelen, Baziel G.Galli, RicardoBogaards, Sylvia J. P.Boon, Reinier A.van der Pijl, Robbert J.Granzier, HenkKoeleman, BobbyAmin, Ahmad S.van der Velden, Jolandavan Tintelen, J. Petervan den Berg, Maarten P.Van Spaendonck-Zwarts, Karin Y.Voermans, Nicol C.Ottenheijm, Coen A. C.
RESEARCH ARTICLES
Coursimault, JulietteCassinari, KevinLecoquierre, FrancoisQuenez, OlivierCoutant, SophieDerambure, CelineVezain, MyriamDrouot, NathalieVera, GabriellaSchaefer, ElisePhilippe, AnaisDoray, BereniceLambert, LaetitiaGhoumid, JamalSmol, ThomasRama, MelanieLegendre, MarineLacombe, DidierFergelot, PatriciaOlaso, RobertBoland, AnneDeleuze, Jean-FrancoisGoldenberg, AliceSaugier-Veber, PascaleNicolas, Gael