NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles

por Nowak, Robert M, Płoski, Rafał
Publicado 2008

The Genetic Basis of Graves' Disease

por Płoski, Rafał, Szymański, Konrad, Bednarczuk, Tomasz
Publicado 2011

Contemporary role of medical genetics in internal medicine

por Saracyn, Marek, Płoski, Rafał, Niemczyk, Stanisław
Publicado 2013

Advances in genetic hearing loss: CIB2 gene

por Jacoszek, Agnieszka, Pollak, Agnieszka, Płoski, Rafał, Ołdak, Monika
Publicado 2016

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

por Szczawinska-Poplonyk, Aleksandra, Ploski, Rafal, Bernatowska, Ewa, Pac, Malgorzata
Publicado 2020

Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse

por Sadakierska-Chudy, Anna, Szymanowski, Paweł, Lebioda, Arleta, Płoski, Rafał
Publicado 2022

Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?

por Ługowska, Agnieszka, Ponińska, Joanna, Krajewski, Paweł, Broda, Grażyna, Płoski, Rafał
Publicado 2011

Genetic Polymorphism of Human Y Chromosome and Risk Factors for Cardiovascular Diseases: A Study in WOBASZ Cohort

por Kostrzewa, Grażyna, Broda, Grażyna, Konarzewska, Magdalena, Krajewki, Paweł, Płoski, Rafał
Publicado 2013

Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case r...

por Grzechocińska, Barbara, Warzecha, Damian, Wypchło, Maria, Ploski, Rafal, Wielgoś, Mirosław
Publicado 2019

Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant

por Paprocka, Justyna, Ziętkiewicz, Szymon, Kosińska, Joanna, Kaczorowska, Ewa, Płoski, Rafał
Publicado 2021

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus

por Jaskiewicz, Katarzyna, Maleszka-Kurpiel, Magdalena, Michalski, Andrzej, Ploski, Rafal, Rydzanicz, Malgorzata, Gajecka, Marzena
Publicado 2023

The 4q25, 1q21, and 16q22 polymorphisms and recurrence of atrial fibrillation after pulmonary vein isolation

por Kiliszek, Marek, Kozluk, Edward, Franaszczyk, Maria, Lodzinski, Piotr, Piatkowska, Agnieszka, Ploski, Rafal, Opolski, Grzegorz
Publicado 2016

Successful use of a phage endolysin for treatment of chronic pelvic pain syndrome/chronic bacterial prostatitis

por Stevens, Roy H., Zhang, Hongming, Kajsik, Michal, Płoski, Rafał, Rydzanicz, Malgorzata, Sabaka, Peter, Šutovský, Stanislav
Publicado 2023

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2

por Szymańska, Edyta, Rokicki, Dariusz, Wątrobinska, Urszula, Ciara, Elżbieta, Halat, Paulina, Płoski, Rafał, Tylki-Szymańka, Anna
Publicado 2015

Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report

por Bobrus-Chociej, Anna, Pollak, Agnieszka, Kopiczko, Natalia, Flisiak-Jackiewicz, Marta, Płoski, Rafał, Lebensztejn, Dariusz M.
Publicado 2021

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

por Biela, Mateusz, Rydzanicz, Malgorzata, Jankowska, Agnieszka, Szlagatys-Sidorkiewicz, Agnieszka, Rozensztrauch, Anna, Płoski, Rafał, Smigiel, Robert
Publicado 2022

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

por Jankowski, Maciej, Daca-Roszak, Patrycja, Obracht-Prondzyński, Cezary, Płoski, Rafał, Lipska-Ziętkiewicz, Beata S., Ziętkiewicz, Ewa
Publicado 2022

Association between Variants on Chromosome 4q25, 16q22 and 1q21 and Atrial Fibrillation in the Polish Population

por Kiliszek, Marek, Franaszczyk, Maria, Kozluk, Edward, Lodzinski, Piotr, Piatkowska, Agnieszka, Broda, Grażyna, Ploski, Rafal, Opolski, Grzegorz
Publicado 2011

Diabetic foot risk factors in type 2 diabetes patients: a cross-sectional case control study

por Nehring, Piotr, Mrozikiewicz-Rakowska, Beata, Krzyżewska, Monika, Sobczyk-Kopcioł, Agnieszka, Płoski, Rafał, Broda, Grażyna, Karnafel, Waldemar
Publicado 2014

Tyrosinemia type III in an asymptomatic girl

por Szymanska, Edyta, Sredzinska, Malgorzata, Ciara, Elzbieta, Piekutowska-Abramczuk, Dorota, Ploski, Rafal, Rokicki, Dariusz, Tylki-Szymanska, Anna
Publicado 2015