Gene-Polymorphies in the P2X7 Gene in Patients With Osteoporotic Fractures

Prenatal Molecular Characterisation by CGH+SNP-ARRAY of Supernumerary Marker Chromosomes and de Novo Apparently Balanced Reciprocal Translocations

NCT01907425 ·Status: TERMINATED ·Phase: NA

The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry

NCT01187524 ·Status: TERMINATED

Dent Disease Mutation Genotyping

NCT01783795 ·Status: COMPLETED ·Phase: NA

Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME)

NCT02510989 ·Status: COMPLETED

Study to Identify the Genetic Variations Associated With Phantom Limb Pain

NCT01462448 ·Status: COMPLETED

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

NCT03605004 ·Status: COMPLETED

Primary Hyperoxaluria Mutation Genotyping

NCT00589225 ·Status: COMPLETED

MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

NCT05102799 ·Status: RECRUITING

Sequence Variations of Genes in the Estrogen Pathway and Perinatal Depression

NCT02373709 ·Status: ACTIVE_NOT_RECRUITING

Finding Genes for Rare Diseases

NCT02724995 ·Status: WITHDRAWN

Genetics and Phantom Limb Pain

NCT01517061 ·Status: WITHDRAWN

Screening for Genes in Patients With Congenital Neutropenia

NCT02866162 ·Status: COMPLETED

Genetic Analysis of Hereditary Prostate Cancer

NCT00001469 ·Status: COMPLETED

Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).

NCT03287193 ·Status: RECRUITING

Contribution of New Generation Oxford Nanopore-type High-throughput Sequencing in the Diagnostic Strategy of Neurogenetic Diseases.

NCT04621422 ·Status: UNKNOWN

Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples

NCT00214448 ·Status: UNKNOWN

Study on Susceptibility Genes of Anterior Cruciate Ligament, Patella Dislocation and Discoid Meniscus

NCT04997538 ·Status: RECRUITING

Genetic Analysis to Predict the Development of Paget's Disease

NCT05309954 ·Status: ACTIVE_NOT_RECRUITING

Observational Study of Advanced Data Analytics in Genetic Conditions

NCT05657405 ·Status: RECRUITING

The Contribution of Optical Mapping to the Characterization of Chromosomal Rearrangements in Patients With Neurodevelopmental Disorders

NCT07133789 ·Status: RECRUITING

Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

NCT02927158 ·Status: RECRUITING

Study of Gene Associations and Infertility

NCT01223092 ·Status: ENROLLING_BY_INVITATION

Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes

NCT02512354 ·Status: COMPLETED

Genetic Study of Families Affected by Paget's Disease of Bone

NCT00747994 ·Status: COMPLETED

MRI and Muscle Involvement in Patients With Mutations in GMPPB

NCT02635321 ·Status: COMPLETED