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Publications by Ewelina Betleja
Functional Characterization of Biallelic RTTN Variants Identified in an Infant With Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Congenital Microcephaly With a Simplified Gyral Pattern: Associated Findings and Their Significance
American Journal of Neuroradiology
Medicine
Nuclear Medicine
Neurology
Imaging
Radiology
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
American Journal of Human Genetics
Genetics
Partial Monosomy14q Involving FOXG1 and NOVA1 in an Infant With Microcephaly, Seizures and Severe Developmental Delay
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Pontocerebellar Hypoplasia Type 4
Non-Syndromic Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 5
Pontocerebellar Hypoplasia Type 8
Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
Genetics in Medicine
Medicine
Genetics
