Prevalence of May-Thurner Syndrome in 1st-degree Relatives of Symptomatic Patients

Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome

NCT02967822 ·Status: RECRUITING

Clinical and Molecular Studies in Families With Inherited Eye Disease

NCT02771236 ·Status: RECRUITING

Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress

NCT05514470 ·Status: WITHDRAWN ·Phase: NA

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

NCT06776341 ·Status: RECRUITING

Genetic Analysis of Familial Brain Aneurysms

NCT00011856 ·Status: COMPLETED

Genetic Risk Factors of the Sneddon Syndrome

NCT06850519 ·Status: COMPLETED

Genetics of Rheumatoid Arthritis

NCT00001678 ·Status: COMPLETED

Relation Between Polymorphism in Genes Related to Kidney Disease and Renal Manifistations in Fabry Disease

NCT00437944 ·Status: COMPLETED

Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis

NCT00055029 ·Status: ACTIVE_NOT_RECRUITING

Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

NCT01193088 ·Status: RECRUITING

Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study

NCT05548881 ·Status: WITHDRAWN

Genome-wide Analysis of Single Nucleotide Polymorphisms of Brain Arteriovenous Malformations and Cerebral Aneurysm

NCT01801488 ·Status: TERMINATED

Genetics of Mendelian Forms of Young Onset Alzheimer Disease

NCT01622894 ·Status: COMPLETED ·Phase: NA

Genetics of Inherited Eye Disease

NCT02471287 ·Status: RECRUITING

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543 ·Status: COMPLETED

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

NCT06595940 ·Status: RECRUITING

Genetics of Mendelian Diseases in Qatar

NCT02021734 ·Status: COMPLETED

Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations

NCT01774916 ·Status: UNKNOWN ·Phase: NA

Genetics of Primary Ciliary Dyskinesia

NCT02389049 ·Status: COMPLETED

A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)

NCT04218006 ·Status: UNKNOWN

Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

NCT05589714 ·Status: RECRUITING

RNF213 Variants and Collateral Vessels in Moyamoya Disease

NCT04906564 ·Status: COMPLETED

Genetic Study of Brain Tumors in Young Children

NCT00010101 ·Status: TERMINATED

Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools

NCT04564235 ·Status: COMPLETED ·Phase: NA

Finding Genes for Rare Diseases

NCT02724995 ·Status: WITHDRAWN