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Author/Creator Rutkowska, Karolina

3. Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. Issue 5 (20th October 2020)

Authors:
Jezela‐Stanek, Aleksandra; Szczepanik, Elżbieta; Mierzewska, Hanna; Rydzanicz, Małgorzata; Rutkowska, Karolina; Knaus, Alexej; Śmigiel, Robert; Stępniak, Iwona; Markiewicz, Michał G.; Boniel, Snir; Krawitz, Peter; Płoski, Rafał
Journal:
Clinical genetics
Issue:
Volume 98:Issue 5(2020)
Page Start:
468
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Expanding the phenotype of DNAJC30‐associated Leigh syndrome. Issue 5 (29th July 2022)

Authors:
Zawadzka, Marta; Krygier, Magdalena; Pawłowicz, Małgorzata; Wilke, Matheus Vernet Machado Bressan; Rutkowska, Karolina; Gueguen, Naig; Desquiret‐Dumas, Valerie; Klee, Eric W.; Schimmenti, Lisa A.; Sławek, Jarosław; Procaccio, Vincent; Płoski, Rafał; Mazurkiewicz‐Bełdzińska, Maria
Journal:
Clinical genetics
Issue:
Volume 102:Issue 5(2022)
Page Start:
438
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood. Issue 4 (7th March 2022)

Authors:
Badura‐Stronka, Magdalena; Śmigiel, Robert; Rutkowska, Karolina; Szymańska, Krystyna; Hirschfeld, Adam Sebastian; Monkiewicz, Michał; Kosińska, Joanna; Wolańska, Ewelina; Rydzanicz, Małgorzata; Latos‐Bieleńska, Anna; Płoski, Rafał
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 4(2022)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗