Magdalena Socha

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 10

Top Topics

Intellectual Disability

Ejection Fraction

Top Venues

Journal of applied genetics

Diagnostics (Basel, Switzerland)

Scientific reports

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics (2022)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics 64 (1) (2022)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics 64 (1) (2022)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics 64 (1) (2022)
Dawid Szczepankiewicz, Piotr Celichowski, Paweł Antoni Kołodziejski, Ewa Pruszyńska-Oszmałek, Maciej Sassek, Przemysław Zakowicz, Ewa Banach, Wojciech Langwinski, Kosma Sakrajda, Joanna Nowakowska, Magdalena Socha, Ewelina M Olech, Joanna Pawlak, Joanna Twarowska-Hauser, Leszek Nogowski, Janusz K Rybakowski, Aleksandra Szczepankiewicz
Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression. International journal of molecular sciences 22 (3) (2021)
Ewelina M Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowinska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis. Scientific reports 10 (1) (2020)
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. European journal of human genetics : EJHG 27 (4) (2019)