Publications by authors named "Ewa Hubert"

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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Ewa Hubert, Bożena Skotnicka

Am J Med Genet A· April 2020

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A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Kazimierz Kozłowski, Bożena Skotnicka, Ewa Hubert

Am J Med Genet A· November 2018

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Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Alina T Midro, Barbara Panasiuk, Zeynep Tümer, Paweł Stankiewicz, Asli Silahtaroglu, Ewa Hubert

Am J Med Genet A· January 2004

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