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GSW全文库(4)	CNKI会议论文(41)	CNKI期刊论文0611(61)
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在“Elsevier电子期刊”中，命中：16,334条，耗时：0.0559716 秒

在所有数据库中总计命中：52,068条

1.Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

作者：Patrick R. Sosnay ; MD¹ ; Danieli B. Salinas ; MD² ; Terry B. White ; PhD³ ; Clement L. Ren ; MD⁴ ; Philip M. Farrell ; MD ; PhD⁵ ; Karen S. Raraigh ; MGC⁶ ; Emmanuelle Girodon ; MD⁷ ; Carlo Castellani ; MD⁸

关键词：CFTR genetic testing ; CFTR mutations ; CFTR-related disorder ; cystic fibrosis ; genotype ; genotype-phenotype correlation mutation ; MVCC ; penetrance ; variant

刊名：The Journal of Pediatrics

出版年：2017

2.Whole genome sequencing of mouse lymphoma L5178Y-3.7.2C (TK^+/−) reveals millions of mutations and genetic markers

作者：Page B. McKinzie ; ¹ ; ^{Page.McKinzie@fda.hhs.gov} ; Javier R. Revollo ; ¹ ; ^{Javier.Revollo@fda.hhs.gov}

关键词：Next generation sequencing ; Genetics ; SNPs

刊名：Mutation Research/Genetic Toxicology and Environmental Mutagenesis

出版年：2017

3.Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6

作者：Jakob H. Langdahl^a ; ^d ; ^{jakob.hoegild.langdahl@rsyd.dk} ; Anja L. Frederiksen^b ; ^d ; Nina Nguyen^c ; Klaus Brusgaard^b ; ^d ; Claus B. Juhl^a

关键词：Hypogonadism ; Spinocerebellar ataxias ; Retinal dystrophies ; Phospholipases ; Genetics ; PNPLA6 mutation

刊名：European Journal of Medical Genetics

出版年：2017

4.Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

作者：Sharon Aharoni^a ; ^b ; ^{aharonis@zahav.net.il} ; Menachem Sadeh^b ; ^c ; Yehuda Shapira^d ; Simon Edvardson^d ; Muhannad Daana^d ; Talia Dor-Wollman^d ; Aviva Mimouni-Bloch^e ; ^b ; Ayelet Halevy^a ; ^b ; Rony Cohen^a ; ^b ; Liora Sagie^f ; Zohar Argov^g ; Malcolm Rabie^a ; ^b ; Ronen Spiegel^h ; Ilana Chervinsky^h ; Naama Orensteinⁱ ; ^b ; Andrew G. Engel^j ; Yoram Nevo^a ; ^b

关键词：Congenital myasthenic syndrome (CMS) ; Genetic mutations ; RAPSN ; COLQ ; CHRNE

刊名：Neuromuscular Disorders

出版年：2017

5.Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation

作者：Matteo Cassina ; ^{matteo.cassina@unipd.it} ; Giulia A. Cagnoli ; Daniela Zuccarello ; Elena Di Gianantonio ; Maurizio Clementi

关键词：Teratogen ; Phenocopy ; Genetics ; Syndrome ; Malformation ; Birth defect

刊名：European Journal of Medical Genetics

出版年：2017

6.Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy

作者：Xueqi Dong¹ ; ^{xueqidong@hotmail.com} ; Peng Fan¹ ; ^{fanpeng126pumc@126.com} ; Tao Tian ^{tiantaophd@163.com} ; Yankun Yang ^{yangyankun66@126.com} ; Yan Xiao ^{xyzmiss315103@sina.com} ; Kunqi Yang ^{kunqiyang@126.com} ; Yaxin Liu ; ^{yaxinliu1978@hotmail.com} ; Xianliang Zhou ; ^{zhouxianliang0326@hotmail.com}

关键词：Left ventricular noncompaction ; Genetics ; Noncompaction cardiomyopathy ; Gene mutations

刊名：Clinica Chimica Acta

出版年：2017

7.C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue

作者：Emma L. Scotter^a ; ^b ; ^{emma.scotter@auckland.ac.nz} ; Leon Smyth^a ; ^b ; James W.T. Bailey^c ; Chun-Hao Wong^c ; Martina de Majo^c ; Caroline A. Vance^c ; Beth J. Synek^d ; Clinton Turner^d ; Jennifer Pereira^a ; ^e ; Alison Charleston^e ; Henry J. Waldvogel^a ; ^f ; Maurice A. Curtis^a ; ^f ; Mike Dragunow^a ; ^b ; Christopher E. Shaw^c ; Bradley N. Smith^c ; Richard L.M. Faull^a ; ^f

关键词：Motor neurone disease ; Amyotrophic lateral sclerosis ; TARDBP ; Brain bank ; C9ORF72 ; Ubiquilin

刊名：Neurobiology of Aging

出版年：2017

8.Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

作者：Hong-han Wang^a ; Yong Feng^b ; ^c ; ^d ; Hai-bo Li^e ; Hong Wu^b ; Ling-yun Mei^b ; Xing-wei Wang^b ; Lu Jiang^b ; Chu-feng He^b ; ^{hechufeng2013@163.com}

关键词：Bartter syndrome ; Sensorineural deafness ; BSND ; GJB2 ; Digenic mutations

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2017

9.Genetic instability, CpG island methylator phenotype, and proliferative activity are distinct differences between diminutive and small tubular adenoma of the colorectum

作者：Yoshiki Nando ; MD^a ; Jiro Watari ; MD ; PhD^a ; ^{watarij@hyo-med.ac.jp} ; Chiyomi Ito ; LA^a ; Ken Hara ; MD ; PhD^a ; Takahisa Yamasaki ; MD ; PhD^a ; Takuya Okugawa ; MD ; PhD^a ; Takashi Kondo ; MD ; PhD^a ; Tomoaki Kono ; MD ; PhD^a ; Katsuyuki Tozawa ; MD ; PhD^a ; Toshihiko Tomita ; MD ; PhD^a ; Yoshio Ohda ; MD ; PhD^a ; Tadayuki Oshima ; MD ; PhD^a ; Hirokazu Fukui ; MD ; PhD^a ; Nagahide Matsubara ; MD ; PhD^b ; Naohiro Tomita ; MD ; PhD^b ; Seiichi Hirota ; MD ; PhD^c ; Hiroto Miwa ; MD ; PhD^a

关键词：Colorectal tubular adenoma ; CpG island methylator phenotype ; Genetic instability ; KRAS ; BRAF

刊名：Human Pathology

出版年：2017

10.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

作者：Stephanie N. Oprescu^a ; Laurie B. Griffin^b ; ^c ; Asim A. Beg^d ; Anthony Antonellis^a ; ^b ; ^{antonell@umich.edu}

关键词：Aminoacyl-tRNA synthetases ; Mendelian disease ; Charcot-Marie-Tooth (CMT) disease ; Peripheral neuropathy ; Neurodevelopmental disease ; Functional evaluation of disease-associated mutations

刊名：Methods

出版年：2017

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