Předměty
Publikace
- Blood pressure in children with renal cysts and diabetes syndrome2021 | 2. lékařská fakulta
- Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement2019 | 1. lékařská fakulta, 2. lékařská fakulta
- For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome2018 | 2. lékařská fakulta, Ústřední knihovna
- Nadměrný růst u dětí a dospělých: nový klinický pohled, nové geny, nové fenotypy2017 | 2. lékařská fakulta
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature2016 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue2015 | 2. lékařská fakulta
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | 2. lékařská fakulta
- Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene2013 | 2. lékařská fakulta
- Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome2012 | 2. lékařská fakulta
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