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Down syndrome phenotype
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publication
Transient myeloproliferative syndrome in newborn without Down syndrome phenotype: a unique case report
2019 |
1. lékařská fakulta
publication
Molecular Analysis of Chromosome 21 in a Patient With a Phenotype of Down Syndrome and Apparently Normal Karyotype
1996 |
2. lékařská fakulta
publication
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome
2016 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
2018 |
2. lékařská fakulta, 1. lékařská fakulta
publication
"Dry mouth" and "Flammer" syndromes-neglected risks in adolescents and new concepts by predictive, preventive and personalised approach
2018 |
Lékařská fakulta v Plzni
publication
Risks associated with the stroke predisposition at young age: facts and hypotheses in light of individualized predictive and preventive approach
2019 |
Lékařská fakulta v Plzni
publication
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
2017 |
2. lékařská fakulta
publication
Prostate cancer management: long-term beliefs, epidemic developments in the early twenty-first century and 3PM dimensional solutions
2020 |
Lékařská fakulta v Plzni