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exome sequencing
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Studium
RNDr. Petra Dušátková Ph.D.
Externí akademický pracovník na 2. lékařská fakulta
68 publikací
Publikace
publication
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
2019 |
2. lékařská fakulta
publication
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
2019 |
2. lékařská fakulta
publication
Lessons from whole-exome sequencing in MODYX families
2014 |
2. lékařská fakulta
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
publication
Monogenic diabetes mellitus hidden in autoantibody-negative diabetes mellitus
2023 |
2. lékařská fakulta
publication
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
2023 |
2. lékařská fakulta
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