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在“Elsevier电子期刊”中，命中：1,646条，耗时：0.010995 秒

在所有数据库中总计命中：2,725条

1.Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening

作者：Richard T. Scott Jr. ; M.D. ; ^{rscott@rmanj.com}

关键词：Chromosomal duplications ; chromosomal deletions ; subchromosomal defects ; preimplantation genetic screening ; embryonic mosaicism

刊名：Fertility and Sterility

出版年：2017

2.Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing

作者：Louis de Mestier^a ; Eric Pasmant^b ; ^c ; Clé ; mence Fleury^d ; Hedia Brixi^a ; Pierre Sohier^b ; ^c ; Thomas Fé ; ron^a ; Marie-Daniè ; le Diebold^d ; Eric Clauser^b ; ^e ; Guillaume Cadiot^a ; ^{gcadiot@chu-reims.fr} ; for the Groupe d&rsquo ; É ; tude des Tumeurs Endocrines

关键词：Carcinoid tumors ; Familial ; Neuroendocrine tumors ; Small intestine

刊名：Digestive and Liver Disease

出版年：2017

3.Skin-Specific Deletion of Mis18α Impedes Proliferation and Stratification of Epidermal Keratinocytes

作者：Koog Chan Park¹ ; Minkyoung Lee² ; Yoon Jeon³ ; Raok Jeon⁴ ; Sung Hee Baek² ; Ho Lee³ ; Keun Il Kim¹ ; ^{kikim@sookmyung.ac.kr}

关键词：CDK ; cyclin-dependent kinase ; E ; embryonic day ; K ; keratin ; P ; postnatal day ; PBS ; phosphate buffered saline

刊名：Journal of Investigative Dermatology

出版年：2017

4.Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing

作者：Paul J Lee^a ; ¹ ; Naomi S. Yoo^a ; ¹ ; Ian S. Hagemann^a ; John D Pfeifer^a ; Catherine E Cottrell^a ; ² ; Haley J Abel^b ; Eric J Duncavage^a ; ^{EDuncavage@path.wustl.edu}

关键词：Leiomyosarcoma ; Molecular diagnostics ; Deep sequencing ; DNA mutational analysis ; Copy number alterations ; DNA sequencing ; Single nucleotide variant

刊名：Experimental and Molecular Pathology

出版年：2017

5.Pediatric pineal germinomas: Epigenetic and genomic approach

作者：Monserrat Pé ; rez-Ramí ; rez^a ; ^e ; Alejo Justino Herná ; ndez-Jimé ; nez^c ; Armando Guerrero-Guerrero^c ; Alicia Georgina Siordia-Reyes^b ; Marta Elena Herná ; ndez-Caballero^f ; Antonio Garcí ; a-Mé ; ndez^c ; Fernando Chico-Ponce de Leó ; n^d ; Fabio Abdel Salamanca-Gó ; mez^a ; Normand Garcí ; a-Herná ; ndez^a ; ^{normandgarcia@gmail.com} ; ^{normandgarcia@yahoo.com}

关键词：Pineal germinoma ; Methylation pattern ; Gene expression ; Alteration chromosome

刊名：Clinical Neurology and Neurosurgery

出版年：2017

6.Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray

作者：Ida Charlotte Bay Lund^a ; ^{idacharlottebaylund@dadlnet.dk" class="auth_mail" title="E-mail the corresponding author} ; Else Marie Vestergaard^a ; Rikke Christensen^a ; Niels Uldbjerg^b ; Naja Becher^a

关键词：Nager syndrome ; Acrofacial dysostosis ; Chromosomal microarray ; Prenatal diagnosis ; SF3B4

刊名：European Journal of Medical Genetics

出版年：2016

7.A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure

作者：Yang Cao ; Umut Aypar ; ^{Aypar.Umut@mayo.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Xq22.1 deletion ; Chromosomal microarray ; Respiratory failure ; Congenital abnormalities

刊名：European Journal of Medical Genetics

出版年：2016

8.Role of chromosomal 1p/19q co-deletion on the prognosis of oligodendrogliomas: A systematic review and meta-analysis

作者：Nan Hu^a ; ^b ; ^{nan.hu@hci.utah.edu" class="auth_mail" title="E-mail the corresponding author} ; Rachel Richards^c ; Randy Jensen^b ; ^d

关键词：OS ; overall survival ; PFS ; progression free survival ; SMD ; standardized mean difference ; WMD ; weighted mean difference ; HR ; hazard ratio ; CI ; confidence interval ; RT ; radiation therapy ; CT ; chemotherapy

刊名：Interdisciplinary Neurosurgery

出版年：2016

9.Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

作者：Gifty Bhat^a ; ^{drgiftybhat@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Danielle LaGrave^b ; Alison Millson^b ; John Herriges^b ; ^c ; Allen N. Lamb^b ; ^c ; Reuben Matalon^d

关键词：Autism spectrum disorder ; ARHGEF9 ; Intellectual disability ; Xq11.1-11.2 deletion

刊名：European Journal of Medical Genetics

出版年：2016

10.Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features

作者：Rosamaria Silipigni^a ; ^{rosamariasilipigni@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Elisa Cattaneo^b ; Marco Baccarin^a ; Monica Fumagalli^c ; Maria Francesca Bedeschi^b

关键词：Deletion 2p11.2p12 ; CGH array ; Bilateral choanal atresia ; Atrial septal defect ; Developmental delay ; Facial anomalies ; CTNNA2 ; LRRTM1 ; REEP1

刊名：European Journal of Medical Genetics

出版年：2016

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