1[期刊论文]

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

作者：Karolina M. Stepien ;Elżbieta Ciara ;Aleksandra Jezela-Stanek

来源：Genes. 2020 ;11(11):1383.doi:10.3390/genes11111383

出版社：MDPI AG

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2[期刊论文]

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

作者：Aleksandra Jezela-Stanek ;Elżbieta Ciara ;Karolina M. Stepien

来源：International Journal of Molecular Sciences. 2020 ;21(12):4564.doi:10.3390/ijms21124564

出版社：MDPI AG

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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]

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

作者：Katarzyna Iwanicka-Pronicka ;Elżbieta Ciara ;Dorota Piekutowska-Abramczuk 等

来源：International Journal of Pediatric Otorhinolaryngology. 2019 ;121:143-149.doi:10.1016/j.ijporl.2019.03.015

出版社：Elsevier BV

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5[期刊论文]

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

作者：Aleksandra Jezela-Stanek ;Agnieszka Różdżyńska-Świątkowska ;Anna Kulpanovich 等

来源：Journal of Applied Genetics. 2019 ;60(2):163-174.doi:10.1007/s13353-019-00491-1

出版社：Springer Nature

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6[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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7[期刊论文]

Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

作者：Aleksandra Jezela-Stanek ;Elżbieta Ciara ;Marzena Juszczak 等

来源：Pediatric Neurology. 2011 ;44(3):221-224.doi:10.1016/j.pediatrneurol.2010.10.007

出版社：Elsevier BV

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8[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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9[期刊论文]

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

作者：Katarzyna Iwanicka-Pronicka ;Joanna Trubicka ;Edyta Szymanska 等

来源：International Journal of Pediatric Otorhinolaryngology. 2021 ;151:110970.doi:10.1016/j.ijporl.2021.110970

出版社：Elsevier BV

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10[期刊论文]

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

作者：Patryk Lipiński ;Elżbieta Ciara ;Dorota Jurkiewicz 等

来源：Frontiers in Pediatrics. 2022 ;10:2214.doi:10.3389/fped.2022.1061043

出版社：Frontiers Media S.A.

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