Publikace
- Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: Apparent growth hormone deficiency but poor response to growth hormone therapy2019 | 2. lékařská fakulta
- Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q232014 | 2. lékařská fakulta
- Má genetické vyšetření u dětí s nedostatkem růstového hormonu klinický význam?2013 | 2. lékařská fakulta
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | 2. lékařská fakulta
- Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary2024 | 2. lékařská fakulta
- SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary2024 | 2. lékařská fakulta
- Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq2024 | 2. lékařská fakulta
- Genetic testing of children with familial tall stature: is it worth doing?2024 | 2. lékařská fakulta
- Monogenic diabetes mellitus hidden in autoantibody-negative diabetes mellitus2023 | 2. lékařská fakulta
- 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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