Publikace
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | 2. lékařská fakulta
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Publikace bez příslušnosti k fakultě
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | 2. lékařská fakulta, 1. lékařská fakulta, Ústřední knihovna
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | 2. lékařská fakulta
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Lékařská fakulta v Hradci Králové
- Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome2016 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | 2. lékařská fakulta, 1. lékařská fakulta
- Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q232014 | 2. lékařská fakulta
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | 2. lékařská fakulta
- A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome2013 | 2. lékařská fakulta
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