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coloboma
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publication
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
2020 |
First Faculty of Medicine
publication
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts
2017 |
First Faculty of Medicine
publication
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study
2006 |
Second Faculty of Medicine
publication
Retinal detachment in an infant with the ring chromosome 13 syndrome
1998 |
Second Faculty of Medicine
publication
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
About Cryptophthalmos. (2nd Czech Study)
2015 |
Central Library of Charles University, Third Faculty of Medicine
publication
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
2017 |
Second Faculty of Medicine
publication
Rare heterozygous GDF6 variants in patients with renal anomalies
2020 |
Second Faculty of Medicine
publication
SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary
2024 |
Second Faculty of Medicine