- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Array comparative genome hybridization in patients with developmental delay: two example casesPublication without faculty affiliation
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder2020 | First Faculty of Medicine
- A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy2023 | First Faculty of Medicine
- Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development2022 | Second Faculty of Medicine
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia2015 | Second Faculty of Medicine
- Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome)2007 | Second Faculty of Medicine
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | First Faculty of Medicine, Second Faculty of Medicine
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?2010 | First Faculty of Medicine
- Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive2012 | Second Faculty of Medicine
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | First Faculty of Medicine
- 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 | Second Faculty of Medicine
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia2019 | First Faculty of Medicine
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | Second Faculty of Medicine
- Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study2019 | Second Faculty of Medicine
- Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors2018 | Second Faculty of Medicine
- Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p152013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | Second Faculty of Medicine
- FOXP1-related intellectual disability syndrome: a recognisable entity2017 | Second Faculty of Medicine
- Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype2022 | First Faculty of Medicine
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency2017 | First Faculty of Medicine
- Autoinflammatory and monogenic vasculitis with possible manifestations in the neonatal age2017 | Second Faculty of Medicine
- Trisomy X syndrome with dystonia and a pathogenic SATB1 variant2021 | First Faculty of Medicine
- Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome2004 | Third Faculty of Medicine
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines2021 | First Faculty of Medicine
- Developmental changes in children in substitutional care2011 | Publication without faculty affiliation
- Cessation of Nocturnal Enuresis After Intervention with Methylcobalamin in an 18-Year-Old Patient with Autism2015 | Publication without faculty affiliation