1[期刊论文]

Syndromic foramina parietalia permagna

作者：Krystyna Chrzanowska ;Kazimierz Kozlowski ;Aleksandra Kowalska

来源：American Journal of Medical Genetics. 1998 ;78(5):401-405.doi:10.1002/(SICI)1096-8628(19980806)78:5<401::AID-AJMG1>3.0.CO;2-O

出版社：John Wiley & Sons, Ltd.

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2[期刊论文]

A further report of Brachmann‐de Lange syndrome in two sibs with normal parents

作者：Matgorzata Krajewska‐Walasek ;Krystyna Chrzanowska ;Anna Tylki‐Szymańska 等

来源：Clinical Genetics. 1995 ;47(6):324-327.doi:10.1111/j.1399-0004.1995.tb03974.x

出版社：John Wiley & Sons, Ltd.

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3[期刊论文]

DNA methylation as an epigenetic biomarker in imprinting disorders

作者：Dorota Jurkiewicz ;Elżbieta Ciara ;Małgorzata Krajewska-Walasek 等

来源：Postępy Higieny i Medycyny Doświadczalnej. 2020 ;74:532-540.doi:10.5604/01.3001.0014.5687

出版社：Index Copernicus International S.A.

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4[期刊论文]

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

作者：Aleksandra Jezela-Stanek ;Elżbieta Ciara ;Ewa Małunowicz 等

来源：Journal of Inherited Metabolic Disease. 2010 ;33(S3):241-248.doi:10.1007/s10545-010-9132-4

出版社：Springer Nature

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5[期刊论文]

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

作者：Dorota Jurkiewicz ;Agata Skórka ;Elżbieta Ciara 等

来源：Clinical Dysmorphology. 2020 ;29(1):28-34.doi:10.1097/MCD.0000000000000307

出版社：Ovid Technologies (Wolters Kluwer Health)

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6[期刊论文]

The ARX mutations: A frequent cause of X‐linked mental retardation

作者：Magdalena Nawara ;Krzysztof Szczaluba ;Karine Poirier 等

来源：American Journal of Medical Genetics Part A. 2006 ;140A(7):727-732.doi:10.1002/ajmg.a.31151

出版社：John Wiley & Sons, Ltd.

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7[期刊论文]

A supernumerary marker chromosome originating from two different regions of chromosome 18

作者：Benno R?thlisberger ;Krystyna Chrzanowska ;Damina Balmer 等

来源：Journal of Medical Genetics. 2000 ;37(2):121.doi:10.1136/jmg.37.2.121

出版社：BMJ

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8[期刊论文]

Radiation Induction of p53 in Cells from Nijmegen Breakage Syndrome Is Defective but Not Similar to Ataxia-Telangiectasia

作者：Kanji Matsuura ;Timur Balmukhanov 等

来源：Biochemical and Biophysical Research Communications. 1998 ;242(3):602-607.doi:10.1006/bbrc.1997.7924

出版社：Elsevier BV

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9[期刊论文]

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

作者：Dorota Wicher ;Irena Jankowska ;Patryk Lipiński 等

来源：Frontiers in Pediatrics. 2019 ;6:422.doi:10.3389/fped.2018.00422

出版社：Frontiers Media S.A.

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10[期刊论文]

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome

作者：Paola Porcedda ;Valentina Turinetto ;Erica Lantelme 等

来源：DNA Repair. 2006 ;5(8):904-913.doi:10.1016/j.dnarep.2006.05.002

出版社：Elsevier BV

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