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在“Elsevier电子期刊”中，命中：20条，耗时：0.0149912 秒

在所有数据库中总计命中：5条

1.Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

作者：Gavin Arno¹ ; ² ; Keren J. Carss³ ; ⁴ ; Sarah Hull¹ ; ² ; Ceniz Zihni¹ ; Anthony G. Robson¹ ; ² ; Alessia Fiorentino¹ ; UK Inherited Retinal Disease Consortium Graeme Black ; Georgina Hall ; Stuart Ingram ; Rachel Gillespie ; Forbes Manson ; Panagiotis Sergouniotis ; Chris Inglehearn ; Carmel Toomes ; Manir Ali ; Martin McKibbin ; James Poulter ; Kamron Khan ; Emma Lord ; Andrea Nemeth ; Susan Downes ; Stephanie Halford ; Jing Yu ; Stefano Lise ; Gavin Arno ; Alessia Fiorentino ; Nikos Ponitkos ; Vincent Plagnol ; Michel Michaelides ; Alison J. Hardcastle ; Michael E. Cheetham ; Andrew R. Webster ; Veronica van Heyningen

关键词：retinitis pigmentosa ; inherited retinal dystrophy ; retinal degeneration ; ARHGEF18 ; p114RhoGEF ; apicobasal polarity

刊名：The American Journal of Human Genetics

出版年：2017

2.A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

作者：David A. Parry ; PhD^a ; ^b ; Tim D. Holmes ; PhD^c ; ^d ; Nikita Gamper ; PhD^e ; Walid El-Sayed ; BDS ; PhD^f ; ^g ; Nishani T. Hettiarachchi ; PhD^h ; Mushtaq Ahmed ; PhDⁱ ; Graham P. Cook ; PhD^c ; Clare V. Logan ; PhD^b ; Colin A. Johnson ; PhD^a ; Shelagh Joss ; MRCP^j ; Chris Peers ; PhD^h ; Katrina Prescott ; FRCPⁱ ; Sinisa Savic ; FRCP ; PhD^k ; Chris F. Inglehearn ; PhD^a ; Alan J. Mighell ; FDSRCS ; PhD^a ; ^f ; ^{a.j.mighell@leeds.ac.uk" class="auth_mail" title="E-mail the corresponding author}

刊名：Journal of Allergy and Clinical Immunology

出版年：2016

3.Poster #T102 IDENTIFICATION OF A SUSCEPTIBILITY LOCUS IN A CONSANGUINEOUS FAMILY WITH MULTIPLE SCHIZOPHRENIA-AFFECTED MEMBERS

作者：Jose L. Ivorra ; Manir Ali ; Clare Logan ; Tariq Mahmood ; Shabana Khan ; Alastair G. Cardno ; Colin Johnson ; Chris F. Inglehearn ; Steven Clapcote

刊名：Schizophrenia Research

出版年：April, 2014

4.Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

作者：Gabrielle Wheway^a ; Zakia Abdelhamed^a ; ^b ; Subaashini Natarajan^a ; Carmel Toomes^a ; Chris Inglehearn^a ; Colin A. Johnson^a ; ^{c.johnson@leeds.ac.uk}

关键词：Cilia ; Ciliopathies ; Wnt signalling ; Proliferation ; Embryonic development

刊名：Developmental Biology

出版年：2013

5.An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model

作者：Siâ ; n R. Morgan^&dagger ; ; Erin P. Dooley^&dagger ; ; Paul M. Hocking^&Dagger ; ; Chris F. Inglehearn^§ ; ; Manir Ali^§ ; ; Thomas L.-M. Sorensen^¶ ; ; Keith M. Meek^&dagger ; ; ^? ; Craig Boote^&dagger ; ; ^? ; ^{bootec@cf.ac.uk}

刊名：Biophysical Journal

出版年：2013

6.Illuminator, a desktop program for mutation detection using short-read clonal sequencing

作者：Ian M. Carr ; ; ^a ; ; ^{i.m.carr@leeds.ac.uk} ; Joanne E. Morgan^a ; Christine P. Diggle^a ; Eamonn Sheridan^a ; Alexander F. Markham^a ; Clare V. Logan^a ; Chris F. Inglehearn^a ; Graham R. Taylor^a ; David T. Bonthron^a

关键词：Mutation detection ; Sequence analysis ; Clonal sequencing ; Software

刊名：Genomics

出版年：2011

7.Ultrastructural changes in the retinopathy, globe enlarged (rge

作者：Craig Boote ; Sally Hayes ; Robert D. Young ; Christina S. Kamma-Lorger ; Paul M. Hocking ; Ahmed Elsheikh ; Chris F. Inglehearn ; Manir Ali ; Keith M. Meek

关键词：Corneal stroma ; Chick ; Collagen fibril ; Biomechanics ; Proteoglycan

刊名：Journal of Structural Biology

出版年：2009

8.Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

作者：Walid El-Sayed ; David A. Parry ; Roger C. Shore ; Mushtaq Ahmed ; Hussain Jafri ; Yasmin Rashid ; Suhaila Al-Bahlani ; Sharifa Al Harasi ; Jennifer Kirkham ; Chris F. Inglehearn ; Alan J. Mighell

刊名：The American Journal of Human Genetics

出版年：2009

9.Familial Exudative Vitreoretinopathy and DiGeorge Syndrome: A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?

作者：David F. Gilmour ; Louise M. Downey ; Eamonn Sheridan ; Vernon Long ; John Bradbury ; Chris F. Inglehearn ; Carmel Toomes

刊名：Ophthalmology

出版年：2009

10.Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype—An X-ray diffraction study

作者：Craig Boote ; Sally Hayes ; Simon Jones ; Andrew J. Quantock ; Paul M. Hocking ; Chris F. Inglehearn ; Manir Ali ; Keith M. Meek

关键词：Cornea ; Chicken ; Collagen fibril ; X-ray diffraction ; Biomechanics

刊名：Journal of Structural Biology

出版年：2008

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