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A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1439, doi. 10.3390/ijms21041439
By:
- Musialik, Joanna;
- Boguszewska-Chachulska, Anna;
- Pojda-Wilczek, Dorota;
- Gorzkowska, Agnieszka;
- Szymańczak, Robert;
- Kania, Magdalena;
- Kujawa-Szewieczek, Agata;
- Wojcieszyn, Małgorzata;
- Hartleb, Marek;
- Więcek, Andrzej
Publication type:
Article
Role of spatial and environmental factors in shaping the rotifer metacommunity in anthropogenic water bodies.
Published in:
Limnology, 2014, v. 15, n. 2, p. 173, doi. 10.1007/s10201-014-0428-1
By:
- Bielańska-Grajner, Irena;
- Cudak, Anna;
- Biała, Anna;
- Szymańczak, Robert;
- Sell, Jerzy
Publication type:
Article
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Published in:
Biomedicines, 2024, v. 12, n. 6, p. 1355, doi. 10.3390/biomedicines12061355
By:
- Matczyńska, Ewa;
- Beć-Gajowniczek, Marta;
- Sivitskaya, Larysa;
- Gregorczyk, Elżbieta;
- Łyszkiewicz, Przemysław;
- Szymańczak, Robert;
- Jędrzejowska, Maria;
- Wylęgała, Edward;
- Krawczyński, Maciej R.;
- Teper, Sławomir;
- Boguszewska-Chachulska, Anna
Publication type:
Article
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Published in:
Genes, 2024, v. 15, n. 8, p. 1011, doi. 10.3390/genes15081011
By:
- Matczyńska, Ewa;
- Szymańczak, Robert;
- Stradomska, Katarzyna;
- Łyszkiewicz, Przemysław;
- Jędrzejowska, Maria;
- Kamińska, Karolina;
- Beć-Gajowniczek, Marta;
- Suchecka, Ewa;
- Zagulski, Marek;
- Wiącek, Marta;
- Wylęgała, Edward;
- Machalińska, Anna;
- Mossakowska, Małgorzata;
- Puzianowska-Kuźnicka, Monika;
- Teper, Sławomir;
- Boguszewska-Chachulska, Anna
Publication type:
Article

Found: 4

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.

Role of spatial and environmental factors in shaping the rotifer metacommunity in anthropogenic water bodies.

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.