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Publications by Eve Vaidla

A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene

Molecular genetics & genomic medicine

Molecular Biology

English

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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 Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis

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Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia

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EP11.10: First Trimester Diagnosis of Meckel-Gruber Syndrome

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A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

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Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene

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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

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A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis

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Compound Heterozygous RMND1 Gene Variants Associated With Chronic Kidney Disease, Dilated Cardiomyopathy and Neurological Involvement: A Case Report

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