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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Published in:
Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006
By:
- Jezela-Stanek, Aleksandra;
- Kucharczyk, Marzena;
- Falana, Katarzyna;
- Jurkiewicz, Dorota;
- Mlynek, Marlena;
- Wicher, Dorota;
- Rydzanicz, Malgorzata;
- Kugaudo, Monika;
- Cieslikowska, Agata;
- Ciara, Elzbieta;
- Ploski, Rafal;
- Krajewska-Walasek, Malgorzata
Publication type:
Article
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
Published in:
2017
By:
- Trubicka, Joanna;
- Żemojtel, Tomasz;
- Hecht, Jochen;
- Falana, Katarzyna;
- Abramczuk, Dorota Piekutowska;
- Płoski, Rafał;
- Perek-Polnik, Marta;
- Drogosiewicz, Monika;
- Grajkowska, Wiesława;
- Ciara, Elżbieta;
- Moszczyńska, Elżbieta;
- Dembowska-Bagińska, Bożenna;
- Perek, Danuta;
- Chrzanowska, Krystyna H.;
- Krajewska-Walasek, Małgorzata;
- Łastowska, Maria;
- Piekutowska-Abramczuk, Dorota
Publication type:
journal article
Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma.
Published in:
Folia Neuropathologica, 2016, v. 54, n. 1, p. 23, doi. 10.5114/fn.2016.58912
By:
- Trubicka, Joanna;
- Szperl, Małgorzata;
- Grajkowska, Wiesława;
- Karkucińska-Więckowska, Agnieszka;
- Tarasińska, Magdalena;
- Falana, Katarzyna;
- Dembowska-Bagińska, Bożenna;
- Łastowska, Maria
Publication type:
Article

Found: 3

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma.