Canlyniadau Chwilio - Płoski, Rafal

NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles gan Nowak, Robert M, Płoski, Rafał

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The Genetic Basis of Graves' Disease gan Płoski, Rafał, Szymański, Konrad, Bednarczuk, Tomasz

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Contemporary role of medical genetics in internal medicine gan Saracyn, Marek, Płoski, Rafał, Niemczyk, Stanisław

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Advances in genetic hearing loss: CIB2 gene gan Jacoszek, Agnieszka, Pollak, Agnieszka, Płoski, Rafał, Ołdak, Monika

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A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report gan Szczawinska-Poplonyk, Aleksandra, Ploski, Rafal, Bernatowska, Ewa, Pac, Malgorzata

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Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse gan Sadakierska-Chudy, Anna, Szymanowski, Paweł, Lebioda, Arleta, Płoski, Rafał

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Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed? gan Ługowska, Agnieszka, Ponińska, Joanna, Krajewski, Paweł, Broda, Grażyna, Płoski, Rafał

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Genetic Polymorphism of Human Y Chromosome and Risk Factors for Cardiovascular Diseases: A Study in WOBASZ Cohort gan Kostrzewa, Grażyna, Broda, Grażyna, Konarzewska, Magdalena, Krajewki, Paweł, Płoski, Rafał

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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... gan Grzechocińska, Barbara, Warzecha, Damian, Wypchło, Maria, Ploski, Rafal, Wielgoś, Mirosław

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Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant gan Paprocka, Justyna, Ziętkiewicz, Szymon, Kosińska, Joanna, Kaczorowska, Ewa, Płoski, Rafał

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Coincidence of Andersen–Tawil syndrome and Marfan syndrome: A case report gan Krych, Michalina, Ponińska, Joanna, Bilińska, Zofia T., Płoski, Rafał, Biernacka, Elżbieta K.

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Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report gan Bobrus-Chociej, Anna, Pollak, Agnieszka, Kopiczko, Natalia, Flisiak-Jackiewicz, Marta, Płoski, Rafał, Lebensztejn, Dariusz M.

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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation gan Biela, Mateusz, Rydzanicz, Malgorzata, Jankowska, Agnieszka, Szlagatys-Sidorkiewicz, Agnieszka, Rozensztrauch, Anna, Płoski, Rafał, Smigiel, Robert

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Association between Variants on Chromosome 4q25, 16q22 and 1q21 and Atrial Fibrillation in the Polish Population gan Kiliszek, Marek, Franaszczyk, Maria, Kozluk, Edward, Lodzinski, Piotr, Piatkowska, Agnieszka, Broda, Grażyna, Ploski, Rafal, Opolski, Grzegorz

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Diabetic foot risk factors in type 2 diabetes patients: a cross-sectional case control study gan Nehring, Piotr, Mrozikiewicz-Rakowska, Beata, Krzyżewska, Monika, Sobczyk-Kopcioł, Agnieszka, Płoski, Rafał, Broda, Grażyna, Karnafel, Waldemar

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Tyrosinemia type III in an asymptomatic girl gan Szymanska, Edyta, Sredzinska, Malgorzata, Ciara, Elzbieta, Piekutowska-Abramczuk, Dorota, Ploski, Rafal, Rokicki, Dariusz, Tylki-Szymanska, Anna

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Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus gan Karolak, Justyna A., Gambin, Tomasz, Rydzanicz, Malgorzata, Polakowski, Piotr, Ploski, Rafal, Szaflik, Jacek P., Gajecka, Marzena

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Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome gan Ponikowska, Malgorzata, Pollak, Agnieszka, Kotwica-Strzalek, Ewa, Brodowska-Kania, Dorota, Mosakowska, Magdalena, Ploski, Rafal, Niemczyk, Stanislaw

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Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations gan Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert

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Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations gan Sanecka, Agnieszka, Biernacka, Elzbieta Katarzyna, Sosna, Magdalena, Mueller-Malesinska, Malgorzata, Ploski, Rafal, Skarzynski, Henryk, Piotrowicz, Ryszard

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