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Genetics and genomics
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Respiratory chain polymorphisms and obesity in the Spanish population, a cross-sectional studyGriseldade Marco,Ana BarbaraGarcia-Garcia,Jose TomasReal,VeronicaGonzalez-Albert,Laisa-SocorroBriongos-Figuero,MartaCobos-Siles,AnaLago-Sampedro,ArturoCorbaton,MariaTeresa Martinez-Larrad,RafaelCarmena,Juan CarlosMartin-Escudero,GemmaRojo-Martínez,Felipe JavierChavesbeplay体育官方手机版 Feb 2019, 9 (2) e027004; DOI:10.1136 / bmjopen - 2018 - 027004
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Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trialCharlotteBurns,LauraYeates,ChristopherSemsarian,JodieInglesbeplay体育官方手机版 Jan 2019, 9 (1) e026627; DOI:10.1136/bmjopen-2018-026627
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Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years oldMarcoCipolli,GloriaTridello,AlessioMicheletto,SandraPerobelli,EmilyPintani,SimoneCesaro,EmanuelaMaserati,ElenaNicolis,CesareDanesinobeplay体育官方手机版 Jan 2019, 9 (1) e022617; DOI:10.1136/bmjopen-2018-022617
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Chemoprevention in BRCA1 mutation carriers (CIBRAC): protocol for an open allocation crossover feasibility trial assessing mechanisms of chemoprevention with goserelin and anastrozole versus tamoxifen and acceptability of treatmentAideen MCampbell,MelanieMorris,Rebecca加拉格爾,RuthBoyd,HazelCarson,D保羅Harkin,EwaWielogorska,ChristopherElliott,Kienan ISavage,Stuart AMcIntoshbeplay体育官方手机版 Dec 2018, 8 (12) e023115; DOI:10.1136/bmjopen-2018-023115
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Association of IL-10 and IL-10RA single nucleotide polymorphisms with the responsiveness to HBV vaccination in Chinese infants of HBsAg(+)/HBeAg(−) mothers: a nested case–control studySiminWen,YanhuaWu,YuchenPan,MengzhuoCao,DanZhao,ChongWang,ChuanWang,FeiKong,JieLi,JunqiNiu,JingJiangbeplay体育官方手机版 Nov 2018, 8 (11) e022334; DOI:10.1136/bmjopen-2018-022334
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineationJulietteBacquet,TanyaStojkovic,AmandineBoyer,NathalieMartini,FrédériqueAudic,BrigitteChabrol,EmmanuelleSalort-Campana,EmilienDelmont,Jean-PierreDesvignes,AnnieVerschueren,ShahramAttarian,AnnabelleChaussenot,ValérieDelague,NicolasLevy,NathalieBonello-Palotbeplay体育官方手机版 Oct 2018, 8 (10) e021632; DOI:10.1136/bmjopen-2018-021632
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Effects of polymorphisms in APOA5 on the plasma levels of triglycerides and risk of coronary heart disease in Jilin, northeast China: a case–control studyYueyueYou,Yan-HuaWu,YangyuZhang,LiliZhang,YanSong,WeiBai,YuanyuanLi,YaqinYu,ChangguiKoubeplay体育官方手机版 Jun 2018, 8 (6) e020016; DOI:10.1136/bmjopen-2017-020016
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MicroRNA-17 and the prognosis of human carcinomas: a systematic review and meta-analysisChengzhiHuang,MengyaYu,XueqingYaobeplay体育官方手机版 May 2018, 8 (5) e018070; DOI:10.1136/bmjopen-2017-018070
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Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trialSalmaShickh,MarcClausen,ChloeMighton,SelinaCasalino,EshaJoshi,EmilyGlogowski,Kasmintan ASchrader,AdenaScheer,ChristineElser,SeemaPanchal,AndreaEisen,TracyGraham,MelyssaAronson,Kara MSemotiuk,LauraWinter-Paquette,MichaelEvans,JordanLerner-Ellis,June CCarroll,Jada GHamilton,KennethOffit,MarkRobson,Kevin EThorpe,AndreasLaupacis,YvonneBombardbeplay体育官方手机版 Jan 2022, 8 (4) e021876; DOI:10.1136/bmjopen-2018-021876
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Heritability of glaucoma and glaucoma-related endophenotypes: systematic review and meta-analysis protocolNigus GebrmedhinAsefa,AnnaNeustaeter,Nomdo MJansonius,HaroldSniederbeplay体育官方手机版 Feb 2018, 8 (2) e019049; DOI:10.1136/bmjopen-2017-019049
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