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Author/Creator Sasiadek, Maria M.

2. Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. Issue 12 (8th September 2016)

Authors:
Smigiel, Robert; Kostrzewa, Grazyna; Kosinska, Joanna; Pollak, Agnieszka; Stawinski, Piotr; Szmida, Elzbieta; Bloch, Michal; Szymanska, Krystyna; Karpinski, Pawel; Sasiadek, Maria M.; Ploski, Rafal
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3265
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?. (2020)

Authors:
Nguyen-Dumont, Tu; Karpinski, Pawel; Sasiadek, Maria M.; Akopyan, Hayane; Steen, Jason A.; Theys, Derrick; Hammet, Fleur; Tsimiklis, Helen; Park, Daniel J.; Pope, Bernard J.; Slezak, Ryszard; Stembalska, Agnieszka; Pesz, Karolina; Kitsera, Nataliya; Siekierzynska, Aleksandra; Southey, Melissa C.;...
Journal:
Genetical research
Issue:
Volume 102(2020)
Page Start:
Record Type:
Journal Article
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5. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Issue 4 (16th February 2016)

Authors:
Smigiel, Robert; Cabala, Magdalena; Jakubiak, Aleksandra; Kodera, Hirofumi; Sasiadek, Marek J.; Matsumoto, Naomichi; Sasiadek, Maria M.; Saitsu, Hirotomo
Journal:
Birth defects research
Issue:
Volume 106:Issue 4(2016)
Page Start:
304
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Issue 4 (16th February 2016)

Authors:
Smigiel, Robert; Cabala, Magdalena; Jakubiak, Aleksandra; Kodera, Hirofumi; Sasiadek, Marek J.; Matsumoto, Naomichi; Sasiadek, Maria M.; Saitsu, Hirotomo
Journal:
Birth defects research
Issue:
Volume 106:Issue 4(2016)
Page Start:
304
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗