Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Konstantin Ridnõi

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

Related publications

Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report

BMC Medical Genetics

English

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

Cold Spring Harbor molecular case studies

Molecular Medicine

English

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

English

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

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

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

Annals of Pediatric Endocrinology and Metabolism

English

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

American Journal of Hematology

English

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

Frontiers in Physiology

English

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

Turkish Journal of Pediatric Disease

English

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

BMC Research Notes

Molecular Biology

English