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Unaffected patients with a homozygous absence of the SMN1 gene.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 8, p. 930, doi. 10.1038/ejhg.2008.41
By:
- Jędrzejowska, Maria;
- Borkowska, Janina;
- Zimowski, Janusz;
- Kostera-Pruszczyk, Anna;
- Milewski, Michał;
- Jurek, Marta;
- Sielska, Danuta;
- Kostyk, Ewa;
- Nyka, Walenty;
- Zaremba, Jacek;
- Hausmanowa-Petrusewicz, Irena
Publication type:
Article
BADANIA MOLEKULARNE W POPULACJI DZIECI CHORYCH NA ASTMĘ OSKRZELOWĄ. CZ. I. POLIMORFIZM REGIONU PROMOTOROWEGO GENU CD14.
Published in:
Polish Pneumonology & Allergology / Pneumonologia i Alergologia Polska, 2001, v. 69, n. 5/6, p. 265
By:
- Lis, Grzegorz;
- Kostyk, Ewa;
- Sanak, Marek;
- Pietrzyk, Jacek J.
Publication type:
Article
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Published in:
Genes, 2021, v. 12, n. 8, p. 1257, doi. 10.3390/genes12081257
By:
- Kutkowska-Kaźmierczak, Anna;
- Boczar, Maria;
- Kalka, Ewa;
- Castañeda, Jennifer;
- Klapecki, Jakub;
- Pietrzyk, Aleksandra;
- Barczyk, Artur;
- Malinowska, Olga;
- Landowska, Aleksandra;
- Gambin, Tomasz;
- Kowalczyk, Katarzyna;
- Wiśniowiecka-Kowalnik, Barbara;
- Smyk, Marta;
- Dawidziuk, Mateusz;
- Niepokój, Katarzyna;
- Paczkowska, Magdalena;
- Szyld, Paweł;
- Lipska-Ziętkiewicz, Beata;
- Szczałuba, Krzysztof;
- Kostyk, Ewa
Publication type:
Article
Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.
Published in:
Human Mutation, 2001, v. 18, n. 5, p. 459, doi. 10.1002/humu.1220
By:
- Jakubowska, Anna;
- Zajaczek, Stanislaw;
- Haus, Olga;
- Limon, Janusz;
- Kostyk, Ewa;
- Krzystolik, Zofia;
- Lubinski, Jan
Publication type:
Article

Found: 4

Unaffected patients with a homozygous absence of the SMN1 gene.

BADANIA MOLEKULARNE W POPULACJI DZIECI CHORYCH NA ASTMĘ OSKRZELOWĄ. CZ. I. POLIMORFIZM REGIONU PROMOTOROWEGO GENU CD14.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.