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Author/Creator Posmyk, Renata

2. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity. Issue 9 (17th June 2014)

Authors:
Gos, Monika; Fahiminiya, Somayyeh; Poznański, Jarosław; Klapecki, Jakub; Obersztyn, Ewa; Piotrowicz, Małgorzata; Wierzba, Jolanta; Posmyk, Renata; Bal, Jerzy; Majewski, Jacek
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 9(2014.)
Page Start:
2310
Record Type:
Journal Article
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3. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. Issue 2 (23rd October 2018)

Authors:
Murcia Pienkowski, Victor; Kucharczyk, Marzena; Młynek, Marlena; Szczałuba, Krzysztof; Rydzanicz, Małgorzata; Poszewiecka, Barbara; Skórka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosińska, Joanna; Krajewski, Paweł; Castaneda, Jennifer; Ob...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 2(2019)
Page Start:
104
Record Type:
Journal Article
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4. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020)

Authors:
Melis, Daniela; Carvalho, Daniel; Barbaro‐Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renat...
Journal:
Clinical genetics
Issue:
Volume 97:Issue 6(2020)
Page Start:
890
Record Type:
Journal Article
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5. Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population. (11th November 2020)

Authors:
Chorąży, Monika; Wawrusiewicz-Kurylonek, Natalia; Adamska-Patruno, Edyta; Zajkowska, Olga; Kapica-Topczewska, Katarzyna; Posmyk, Renata; Krętowski, Adam Jacek; Kochanowicz, Jan; Kułakowska, Alina
Other Names:
Taurone Samanta Academic Editor.
Journal:
Journal of immunology research
Issue:
Volume 2020(2020)
Page Start:
Record Type:
Journal Article
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6. The smallest de novo deletion of 20q11.21–q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities. Issue 4 (23rd January 2014)

Authors:
Posmyk, Renata; Leśniewicz, Ryszard; Gogiel, Magdalena; Chorąży, Monika; Bakunowicz‐Łazarczyk, Alina; Sielicka, Danuta; Vermeesch, Joris; Nowakowska, Beata Anna
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 4(2014.)
Page Start:
1056
Record Type:
Journal Article
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7. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Issue 1 (7th October 2016)

Authors:
Yokote, Koutaro; Chanprasert, Sirisak; Lee, Lin; Eirich, Katharina; Takemoto, Minoru; Watanabe, Aki; Koizumi, Naoko; Lessel, Davor; Mori, Takayasu; Hisama, Fuki M.; Ladd, Paula D.; Angle, Brad; Baris, Hagit; Cefle, Kivanc; Palanduz, Sukru; Ozturk, Sukru; Chateau, Antoinette; Deguchi, Kentaro; Eas...
Journal:
Human mutation
Issue:
Volume 38:Issue 1(2017)
Page Start:
7
Record Type:
Journal Article
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