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在“Elsevier电子期刊”中，命中：14,538条，耗时：0.097952 秒

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1.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

2.Cystic and necrotic papillary renal cell carcinoma: prognosis, morphology, immunohistochemical, and molecular-genetic profile of 10 cases

作者：Kvetoslava Peckova ; MD^a ; Petr Martinek ; PhD^a ; Kristyna Pivovarcikova ; MD^a ; Tomas Vanecek ; PhD^a ; Reza Alaghehbandan ; MD^b ; Kristyna Prochazkova ; MD^c ; Delia Perez Montiel ; MD^d ; Milan Hora ; MD ; PhD^c ; Faruk Skenderi ; MD^e ; Monika Ulamec ; MD ; PhD^f ; Pavla Rotterova ; MD ; PhD^g ; Ondrej Daum ; MD ; PhD^a ; Jiri Ferda ; MD ; PhD^h ; Whitney Davidson ; BSⁱ ; Ondrej Ondic ; MD^a ; Magdalena Dubova ; MD^a ; Michal Michal ; MD^a ; Ondrej Hes ; MD ; PhD^a ; ^{hes@medima.cz}

关键词：Kidney ; Papillary renal cell carcinoma ; Cystic ; Necrosis ; Necrotics ; Molecular genetics

刊名：Annals of Diagnostic Pathology

出版年：2017

3.Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists

作者：Marilyn M. Li^&lowast ; ; ^&dagger ; ; ^{lim5@email.chop.edu} ; Michael Datto^&lowast ; ; ^&Dagger ; ; Eric J. Duncavage^&lowast ; ; ^§ ; ; Shashikant Kulkarni^&lowast ; ; ^¶ ; ; Neal I. Lindeman^&lowast ; ; ^‖ ; Somak Roy^&lowast ; ; ^&lowast ; &lowast ; ; Apostolia M. Tsimberidou^&lowast ; ; ^&dagger ; &dagger ; ; Cindy L. Vnencak-Jones^&lowast ; ; ^&Dagger ; &Dagger ; ; Daynna J. Wolff^&lowast ; ; ^§ ; § ; ; Anas Younes^&lowast ; ; ^¶ ; ¶ ; ; Marina N. Nikiforova^&lowast ; ; ^&lowast ; &lowast ;

刊名：The Journal of Molecular Diagnostics

出版年：2017

4.Molecular Genetics and Metabolism Reports

刊名：Molecular Genetics and Metabolism

出版年：2017

5.Applications of next-generation sequencing in fisheries research: A review

作者：Girish Kumar ; ^{girishkumar.nio@gmail.com} ; Martin Kocour

关键词：Aquaculture ; Evolution ; Genome ; Molecular marker ; Population genetics ; Traceability

刊名：Fisheries Research

出版年：2017

6.The Cellular and Synaptic Architecture of the Mechanosensory Dorsal Horn

作者：Victoria E. Abraira¹ ; ⁸ ; Emily D. Kuehn¹ ; ² ; ⁸ ; Anda M. Chirila¹ ; Mark W. Springel¹ ; Alexis A. Toliver¹ ; Amanda L. Zimmerman¹ ; Lauren L. Orefice¹ ; Kieran A. Boyle³ ; Ling Bai¹ ; ² ; Bryan J. Song¹ ; Karleena A. Bashista¹ ; Thomas G. O'Neill¹ ; Justin Zhuo¹ ; Connie Tsan¹ ; Jessica Hoynoski¹ ; Michael Rutlin⁴ ; ⁹ ; Laura Kus⁵ ; Vera Niederkofler⁶ ; Masahiko Watanabe⁷ ; Susan M. Dymecki⁶ ; Sacha B. Nelson⁴ ; Nathaniel Heintz⁵ ; David I. Hughes³ ; David D. Ginty¹ ; ¹⁰ ; ^{david_ginty@hms.harvard.edu}

关键词：spinal cord interneurons ; low-threshold mechanoreceptors ; somatosensation ; spinal cord dorsal horn ; mouse molecular genetics ; synaptic connectivity

刊名：Cell

出版年：2017

7.Types A and B Niemann-Pick disease

作者：Edward H. Schuchman ; ^{edward.schuchman@mssm.edu} ; Robert J. Desnick

关键词：Niemann-Pick ; Acid sphingomyelinase ; Sphingomyelin ; Mouse model ; Enzyme Replacement Therapy

刊名：Molecular Genetics and Metabolism

出版年：2017

8.Pathology of paediatric bone tumours

作者：Adrienne M. Flanagan ; Luis Perez-Casanova

关键词：Bone tumour ; children ; chondrosarcoma ; chordoma ; Ewing sarcoma ; genetics ; mosaic disorder ; mutation ; osteosarcoma ; paediatric ; sarcoma

刊名：Surgery (Oxford)

出版年：2017

9.The Role of Genes, Stress, and Dopamine in the Development of Schizophrenia

作者：Oliver D. Howes^a ; ^b ; ^{oliver.howes@kcl.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Robert McCutcheon^a ; ^b ; Michael J. Owen^c ; Robin M. Murray^a

关键词：Dopamine ; Etiology ; Genetics ; Neuroimaging ; PET ; Prodrome ; Psychosis ; Schizophrenia ; Stress

刊名：Biological Psychiatry

出版年：2017

10.InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

作者：Quan Li¹ ; ⁴ ; Kai Wang¹ ; ² ; ³ ; ^{kw2701@cumc.columbia.edu}

关键词：InterVar ; variant annotation ; variant interpretation ; clinical interpretation ; ClinVar ; genetic diagnosis ; ACMG ; ANNOVAR

刊名：The American Journal of Human Genetics

出版年：2017

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