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Journal of Clinical Medicine|August 12, 2022
Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature ReviewStefania Drovandi, Francesca Lugani, Olivia Boyer, et al.Genes, Chromosomes & Cancer|November 2, 2020
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemiaAgata Pastorczak, Anna Hogendorf, Zuzanna Urbanska, et al.Pediatric Nephrology (Berlin, Germany)|December 18, 2012
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndromeAndrea Kerti, Rózsa Csohány, Attila Szabó, et al.Molecular Vision|July 29, 2021
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypesAnna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, et al.Scientific Reports|February 18, 2022
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndromeJoel T Gibson, Mary Huang, Marina Shenelli Croos Dabrera, et al.Molecular Medicine (Cambridge, Mass.)|July 10, 2026
From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencingMonika Horbacz, Justyna Prokopiuk, Elisabeth Castellanos, et al.American Journal of Medical Genetics. Part A|July 5, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndromeFelix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, et al.Journal of the American Society of Nephrology : JASN|May 14, 2015
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGSEmine Korkmaz, Beata S Lipska-Ziętkiewicz, Olivia Boyer, et al.Journal of Applied Genetics|May 7, 2013
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian populationBeata S Lipska, Irena Balasz-Chmielewska, Lucyna Morzuch, et al.Frontiers in Immunology|December 6, 2021
Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and ImmunodeficiencyAnna Hogendorf, Maciej Zieliński, Maria Constantinou, et al.Pageof 5