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Search for publications relevant for "Genotype-phenotype analysis"
Genotype-phenotype analysis
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publication
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
2014 |
First Faculty of Medicine
publication
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
2021 |
Second Faculty of Medicine
publication
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
2014 |
First Faculty of Medicine
publication
First genotype-phenotype study reveals HLA-DQ beta 1 insertion heterogeneity in high-resolution manometry achalasia subtypes
2019 |
First Faculty of Medicine, Central Library of Charles University
publication
Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population
2009 |
Second Faculty of Medicine
publication
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
Second Faculty of Medicine