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Hledat osoby relevantní k dotazu "adult-onset"
adult-onset
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Publikace
Studium
RNDr. Petra Dušátková Ph.D.
Externí akademický pracovník na 2. lékařská fakulta
68 publikací
Publikace
publication
Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review
2015 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
Two Independent Genetic Factors Responsible for the Associations of the IBD5 Locus with Crohn's Disease in the Czech Population
2011 |
2. lékařská fakulta
publication
Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population
2009 |
2. lékařská fakulta
publication
Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs
2008 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)
2024 |
2. lékařská fakulta
publication
Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary
2024 |
2. lékařská fakulta
publication
SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary
2024 |
2. lékařská fakulta
publication
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
2024 |
2. lékařská fakulta
publication
Genetic testing of children with familial tall stature: is it worth doing?
2024 |
2. lékařská fakulta