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Publications by Urania Kotzaeridou
Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency
European Journal of Human Genetics
Genetics
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No Evidence for Rare Recessive and Compound Heterozygous Disruptive Variants in Schizophrenia
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Epileptic Encephalopathy and Cerebellar Atrophy Resulting From Compound Heterozygous CACNA2D2 Variants
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Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis
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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
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Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
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Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)
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Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia
JCRPE Journal of Clinical Research in Pediatric Endocrinology
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Siblings With Lethal Primary Pulmonary Hypoplasia and Compound Heterozygous Variants in the AARS2 Gene: Further Delineation of the Phenotypic Spectrum
Cold Spring Harbor molecular case studies
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A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene
Molecular genetics & genomic medicine
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