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Author/Creator Skowroński, Rafał

1. A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation. Issue 11 (17th October 2018)

Authors:
Midro, Alina T.; Stasiewicz‐Jarocka, Beata; Borys, Jan; Kozłowski, Kazimierz; Skotnicka, Bożena; Tarasów, Eugeniusz; Hubert, Ewa; Konstantynowicz, Jerzy; Panasiuk, Barbara; Rydzanicz, Małgorzata; Pollak, Agnieszka; Stawiński, Piotr; Skowroński, Rafał; Płoski, Rafał
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2382
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome. Issue 4 (11th January 2019)

Authors:
Midro, Alina T.; Tommerup, Niels; Borys, Jan; Panasiuk, Barbara; Kosztyła‐Hojna, Bożena; Zalewska, Renata; Konstantynowicz, Jerzy; Łebkowska, Urszula; Cooper, Lance; Scherer, Steven E.; Mehrjouy, Manna M.; Liu, Qian; Skowroński, Rafał; Stankiewicz, Paweł
Journal:
Clinical genetics
Issue:
Volume 95:Issue 4(2019)
Page Start:
534
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗