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Elsevier电子期刊(10)

在“Elsevier电子期刊”中，命中：10条，耗时：0.0379834 秒

在所有数据库中总计命中：14条

1.Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays

作者：Svetlana A. Yatsenko ; M.D.^a ; ^b ; ^c ; Priya Mittal ; Ph.D.^c ; ^d ; ^e ; Michelle A. Wood-Trageser ; Ph.D.^f ; Mirka W. Jones ; M.D.^b ; Urvashi Surti ; Ph.D.^a ; ^b ; ^c ; ^d ; Robert P. Edwards ; M.D.^a ; ^d ; Anil K. Sood ; M.D.^g ; Aleksandar Rajkovic ; M.D. ; Ph.D.^a ; ^b ; ^c ; ^d ; ^{rajkovic@upmc.edu}

关键词：Uterine leiomyoma ; uterine leiomyosarcoma ; MED12 mutation negative ; whole exome sequencing ; whole genome copy number analysis

刊名：Fertility and Sterility

出版年：2017

2.A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

关键词：FBXL4 ; c.1442T>C ; p.Leu481Pro ; Mitochondrial disorder ; mtDNA depletion ; MTDPS13

刊名：European Journal of Medical Genetics

出版年：2016

3.Analysis of prostate cancer circulating tumour cells isolated with a novel size-based system

作者：Lei Xu ; MD^a ; Xueying Mao ; PhD^a ; Pui Ying Chan ; MBBS^b ; Jonathan Shamash ; MD^b ; Dr Yong-Jie Lu ; PhD^a ; ^{y.j.lu@qmul.ac.uk" class="auth_mail" title="E-mail the corresponding author}

刊名：The Lancet

出版年：2016

4.Identification of new FBXL4 patients with mitochondrial disorders

作者：Hongzheng Dai^a ; Tian Xia^a ; Stella Chen^a ; Megan Palculict^a ; Marwan Shinawi^b ; Can Ficicioglu^c ; Matthew Lines^d ; Jing Wang^a ; Victor Wei Zhang^a ; Lee-Jun Wong^a

刊名：Mitochondrion

出版年：2015

5.Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy

作者：Darius Ebrahimi-Fakhari ; MD^a ; ^{d.ebrahimi-fakhari@uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author} ; Angelika Seitz ; MD^b ; Stefan Kö ; lker ; MD^a ; Georg F. Hoffmann ; MD^a

刊名：Pediatric Neurology

出版年：2015

6.Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

作者：Penelope?E. Bonnen ; John?W. Yarham ; Arnaud Besse ; Ping Wu ; Eissa?A. Faqeih ; Ali?Mohammad Al-Asmari ; Mohammad?A.M. Saleh ; Wafaa Eyaid ; Alrukban Hadeel ; Langping He ; Frances Smith ; Shu Yau ; Eve?M. Simcox ; Satomi Miwa ; Taraka Donti ; Khaled?K. Abu-Amero ; Lee-Jun Wong ; William?J. Craigen ; Brett?H. Graham ; Kenneth?L. Scott ; et al.

刊名：The American Journal of Human Genetics

出版年：2013

7.Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

作者：Xiaowu Gai ; Daniele Ghezzi ; Mark?A. Johnson ; Caroline?A. Biagosch ; Hanan?E. Shamseldin ; Tobias?B. Haack ; Aurelio Reyes ; Mai Tsukikawa ; Claire?A. Sheldon ; Satish Srinivasan ; Matteo Gorza ; Laura?S. Kremer ; Thomas Wiel ; Tim?M. Strom ; Erzsebet Polyak ; Emily Place ; Mark Consugar ; Julian Ostrovsky ; Sara Vidoni ; Alan?J. Robinson ; et al.

刊名：The American Journal of Human Genetics

出版年：2013

8.FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

作者：Xiaowu Gai ; Daniele Ghezzi ; Mark A. Johnson ; Caroline Biagosch ; Hanah Shamseldin ; Mai Tsukikawa ; Claire Sheldon ; Satish Srinivasan ; Tobias Haack ; Matteo Gorza ; Thomas Wiel ; Tim Strom ; Erzsebet Polyak ; Emily Place ; Mark Consugar ; Julian Ostrovsky ; Sara Vidoni ; Aurelio Reyes ; Lee-Jun Wong ; Neal Sondheimer ; et al.

刊名：Mitochondrion

出版年：November, 2013

9.Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

刊名：The American Journal of Human Genetics

出版年：2013

10.The Fly CAMTA Transcription Factor Potentiates Deactivation of Rhodopsin, a G Protein-Coupled Light Receptor

作者：Junhai Han ; Ping Gong ; Keith Reddig ; Mirna Mitra ; Peiyi Guo ; Hong-Sheng Li

刊名：Cell

出版年：2006

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2027年及以后(1)

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