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Elsevier电子期刊(8)

在“Elsevier电子期刊”中，命中：8条，耗时：小于0.01 秒

在所有数据库中总计命中：13条

1.Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) 鈥?Further extension of the mutational spectrum

作者：Aleksander Jamsheer^a ; ^b ; ^{jamsheer@wp.pl" class="auth_mail} ; Anna Sowi艅ska-Seidler^a ; Magdalena Socha^a ; Agnieszka Stembalska^c ; Cathy Kiraly-Borri^d ; Anna Latos-Biele艅ska^a ; ^b

关键词：ASD ; atrial septal defect ; AVSD ; atrioventricular septal defect ; CHD ; congenital heart defect ; Cx43 ; connexin 43 ; EVS ; exome variant server ; FISH ; fluorescent in situ hybridization ; GJA1 ; gap junction alpha 1 gene ; GJPA1 ; gap junction alpha 1 pseudogene ; HGMD ; human gene mutation database ; HLHS ; hypoplastic left heart syndrome ; MRI ; magnetic resonance imaging ; ODDD ; oculo-dento-digital dysplasia ; ODDS ; oculo-dento-digital syndrome ; PCR ; polymerase chain reaction ; SDTY3 ; syndactyly type 3 ; SIFT

刊名：Gene

出版年：10 April, 2014

2.Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome

作者：Edyta Sutkowska^a ; ^{edytasutkowska@yahoo.com} ; Justyna Gil^b ; Agnieszka Stembalska^b ; Aneta Hill-Bator^c ; Andrzej Szuba^d

关键词：LDS ; Lymphoedema&ndash ; distichiasis syndrome

刊名：Gene

出版年：2012

3.Corrigendum to ¡°Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema©\distichiasis syndrome¡± [Gene 498 (2012) 96-99]

作者：Edyta Sutkowska ; Justyna Gil ; Agnieszka Stembalska ; Aneta Hill-Bator ; Andrzej Szuba

刊名：Gene

出版年：2012

4.Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

作者：Pawel Karpinski ; Aleks ; er Myszka ; David Ramsey ; Blazej Misiak ; Justyna Gil ; Izabela Laczmanska ; Zygmunt Grzebieniak ; Tadeusz Sebzda ; Robert Smigiel ; Agnieszka Stembalska ; Maria M. Sasiadek

关键词：Cytosine methylation ; Colorectal cancer ; Methylator phenotype ; CIMP ; Gene silencing ; Polymorphisms ; Methyl-group metabolism

刊名：Cancer Epidemiology

出版年：2010

5.Cri du chat syndrome determined by the 5p15.3→pter deletion—diagnostic problems

作者：Izabela Laczmanska ; Agnieszka Stembalska ; Justyna Gil ; Halina Czemarmazowicz ; Maria Sasiadek

关键词：Cri du chat syndrome ; FISH ; 5p- ; 5p Microdeletion

刊名：European Journal of Medical Genetics

出版年：2006

6.Analysis of adaptive response to bleomycin and mitomycin C

作者：Schlade-Bartusiak ; Kamila ; Stembalska-Kozlowska ; Agnieszka ; Bernady ; Monika ; Kudyba ; Marta ; et. al.

关键词：Adaptive response ; Bleomycin ; Mitomycin C ; DNA-damage repair

刊名：Mutation Research/Genetic Toxicology and Environmental Mutagenesis

出版年：2002

7.Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH

作者：Zych ; Monika ; Schlade-Bartusiak ; Kamila ; Chorostkowska ; Anna ; Stembalska ; Agnieszka ; Krê ; cicki ; Tomasz ; et. al.

关键词：Head-and-neck squamous cells carcinoma ; Bleomycin test ; Fluorescence in situ hybridization ; Hidden chromosome instability

刊名：Cancer Letters

出版年：2000

8.Classical and molecular cytogenetics in analysis of diepoxybutane-induced chromosome aberrations

作者：Sasiadek ; Maria ; Schlade ; Kamilla ; Busza ; Halina ; Czemarmazowicz ; Halina ; Stembalska ; Agnieszka

关键词：Diepoxybutane ; Chromosome aberration ; FISH

刊名：Mutation Research/Genetic Toxicology and Environmental Mutagenesis

出版年：1998

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