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Elsevier电子期刊(185)

在“Elsevier电子期刊”中，命中：185条，耗时：0.0230198 秒

在所有数据库中总计命中：268条

1.Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy

作者：Hiroto Kitahara ; MD^a ; Kan Nawata ; MD^a ; ^{nawataka-sur@h.u-tokyo.ac.jp} ; Osamu Kinoshita ; MD^a ; Yoshifumi Itoda ; MD^a ; Yukako Shintani ; MD^b ; Masashi Fukayama ; MD^b ; Minoru Ono ; MD^a

刊名：The Annals of Thoracic Surgery

出版年：2017

2.Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)

作者：Daniel G. Bichet ; MD^a ; ^b ; ^c ; ^{daniel.bichet@umontreal.ca" class="auth_mail" title="E-mail the corresponding author} ; Detlef Bockenhauer ; MD ; PhD^d ; ^{d.bockenhauer@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：Nephrogenic diabetes insipidus ; X-linked nephrogenic diabetes insipidus ; Autosomal recessive nephrogenic diabetes insipidus ; AVPR2 ; AQP2 ; Dehydration ; Misfolded proteins ; Cyclic AMP

刊名：Best Practice Research Clinical Endocrinology Metabolism

出版年：2016

作者：Juan Manuel Chao de la Barca^a ; ^b ; Delphine Prunier-Mirebeau^a ; ^b ; Patrizia Amati-Bonneau^a ; ^b ; Marc Ferré ; ^b ; Emmanuelle Sarzi^c ; Cé ; line Bris^a ; ^b ; Sté ; phanie Leruez^d ; Arnaud Chevrollier^b ; Valé ; rie Desquiret-Dumas^a ; ^b ; Naï ; g Gueguen^a ; ^b ; Christophe Verny^b ; ^e ; Christian Hamel^c ; ^f ; Dan Milé ; a^b ; ^d ; ^g ; Vincent Procaccio^a ; ^b ; Dominique Bonneau^a ; ^b ; Guy Lenaers^b ; ¹ ; Pascal Reynier^a ; ^b ; ¹ ; ^{pareynier@chu-angers.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：DOA ; Dominant Optic Atrophy ; DOAD ; Dominant Optic Atrophy and Deafness ; mtDNA ; Mitochondrial DNA ; OCT ; Optical Coherence Tomography ; OPA1 ; Optic Atrophy 1 ; OXPHOS ; Oxidative Phosphorylation ; RGC ; Retinal Ganglion Cell

刊名：Neurobiology of Disease

出版年：2016

4.Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease

作者：Takashi Iijima ; MD^a ; Junichi Hoshino ; MD ; MPH^a ; ^{hoshino@toranomon.gr.jp" class="auth_mail" title="E-mail the corresponding author} ; Koki Mise ; MD^a ; Keiichi Sumida ; MD^a ; Tatsuya Suwabe ; MD ; PhD^a ; Noriko Hayami ; MD^a ; Toshiharu Ueno ; MD ; PhD^a ; Kenmei Takaichi ; MD ; PhD^a ; ^b ; Takeshi Fujii ; MD ; PhD^c ; Kenichi Ohashi ; MD ; PhD^c ; ^e ; Naoya Morisada ; MD ; PhD^d ; Kazumoto Iijima ; MD ; PhD^d ; Yoshifumi Ubara ; MD ; PhD^a ; ^b

关键词：Orofaciodigital syndrome type 1 ; Glomerulocystic kidney disease ; X-linked dominant inheritance ; Polycystic kidney disease ; Canine defect ; Brachydactyly

刊名：Human Pathology

出版年：2016

5.Effects of obesity on the association between common variations in the TBX5 gene and matrix metalloproteinase 9 levels in Taiwanese

作者：Yaw-Tsan Ho^a ; Semon Wu^b ; ^c ; Ching-Feng Cheng^d ; ^e ; Lung-An Hsu^f ; Ming-Sheng Teng^b ; Ching-Hua Yeh^g ; Jeng Feng Lin^g ; Yu-Lin Ko^b ; ^e ; ^g ; ^{yulinkotw@yahoo.com.tw" class="auth_mail" title="E-mail the corresponding author}

关键词：Gene association study ; Haplotype ; Interaction ; Matrix metalloproteinase 9 ; TBX5 gene

刊名：Tzu Chi Medical Journal

出版年：2016

6.Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

作者：Brian W. Kunkle^a ; James Jaworski^a ; Sandra Barral^b ; ^c ; ^d ; Badri Vardarajan^b ; ^c ; ^f ; ^g ; Gary W. Beecham^a ; Eden R. Martin^a ; Laura S. Cantwell^h ; Amanda Partch^h ; Thomas D. Birdⁱ ; ^j ; Wendy H. Raskind^j ; ^k ; Anita L. DeStefano^l ; Regina M. Carney^a ; ^m ; Michael Cuccaro^a ; ⁿ ; Jeffrey M. Vance^a ; ⁿ ; Lindsay A. Farrer^k ; ^o ; ^p ; ^q ; ^r ; Alison M. Goate^f ; ^g ; Tatiana Foroud^s ; Richard P. Mayeux^b ; ^c ; ^d ; ^e ; ^t ; Gerard D. Schellenberg^h ; Jonathan L. Haines^u ; Margaret A. Pericak-Vance^a ; ⁿ ; ^{mpericak@med.miami.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Non-Hispanic white ; Late-onset Alzheimer's disease ; Linkage ; High penetrance ; Identity by descent ; Familial ; Genetics

刊名：Alzheimer's & Dementia

出版年：2016

7.Characterization of a group unrelated patients with arthrogryposis multiplex congenita

作者：Margarita Valdé ; s-Flores^a ; ¹ ; Leonora Casas-Avila^a ; ¹ ; Edgar Herná ; ndez-Zamora^a ; ^{edgarhz1969@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Susana Kofman^b ; Alberto Hidalgo-Bravo^a

关键词：Contracture ; Arthrogryposis ; Amyoplasia congenita

刊名：Jornal de Pediatria

出版年：2016

8.Dual resistance to lambda-cyhalothrin and dicrotophos in Hippodamia convergens (Coleoptera: Coccinellidae)

作者：Paulo R.R. Barbosa^a ; J.P. Michaud^b ; ^{jpmi@ksu.edu" class="auth_mail" title="E-mail the corresponding author} ; Agna R.S. Rodrigues^c ; Jorge B. Torres^a

关键词：Convergent lady beetle ; Mode of inheritance ; Local adaptation ; Organophosphates ; Pyrethroids

刊名：Chemosphere

出版年：2016

9.P194 - 2916: The Rett syndrome in our hospital

作者：V. Garcia Sanchez ; M. Ley Martos ; G. Gutierrez Aguilar ; R. Marin Iglesias ; S.P. Lubian Lopez

刊名：European Journal of Paediatric Neurology

出版年：2015

10.The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-H眉nermann-Happle syndrome

作者：Javier Cañ ; ueto^a ; ^b ; ^{jcanueto@yahoo.es" class="auth_mail} ; Marisa Giró ; s^c ; Rogelio Gonzá ; lez-Sarmiento^b ; ^d ; ^e

关键词：Cholesterol ; CDPX2 ; EBP ; Sterol isomerase ; Conradi&ndash ; Hü ; nermann&ndash ; Happle syndrome ; X-linked dominant chondrodysplasia punctata

刊名：Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids

出版年：March, 2014

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