The Genotype and Phenotype of Lymphangioleiomyomatosis

Genetic Study of Newly Diagnosed Central Nervous System Tumors in Young Children

NCT00010114 ·Status: COMPLETED

Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing

NCT02509650 ·Status: UNKNOWN

A Genetic Linkage Study of Schizophrenia

NCT00155688 ·Status: COMPLETED

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

NCT01193088 ·Status: RECRUITING

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

NCT01995305 ·Status: AVAILABLE

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

NCT01568658 ·Status: ACTIVE_NOT_RECRUITING

Study on the Association Between SXCI and RM and the Possible Genetic Mechanism

NCT02504281 ·Status: COMPLETED

Molecular Genetic Study of Schizophrenia: Parent-Offspring Trios

NCT00155506 ·Status: COMPLETED

Genetic Evaluation of NF1 and Scoliosis Patients

NCT01776125 ·Status: COMPLETED

Molecular Basis of Langerhans and Non-Langerhans Cell Histiocytic Neoplasms and Castleman Disease

NCT05028621 ·Status: SUSPENDED ·Phase: NA

Nephronophthisis : Clinical and Genetic Study

NCT01022957 ·Status: COMPLETED ·Phase: NA

Genetics of Neural Tube Defects

NCT01253746 ·Status: UNKNOWN

Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

NCT01732185 ·Status: COMPLETED ·Phase: NA

Genetic Studies of Lysosomal Storage Disorders

NCT00001215 ·Status: ENROLLING_BY_INVITATION

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)

NCT06160310 ·Status: RECRUITING

Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies

NCT03673592 ·Status: COMPLETED

Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children

NCT06293560 ·Status: RECRUITING

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

NCT01801488 ·Status: TERMINATED

Genetics of Spina Bifida and Anencephaly

NCT00636233 ·Status: COMPLETED

Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis

NCT00055029 ·Status: ACTIVE_NOT_RECRUITING

Family-based Genetic Long-term Study of Brain Function in Schizophrenia

NCT01045824 ·Status: UNKNOWN

A Study of the Genetic Analysis of Brain Disorders

NCT00645645 ·Status: COMPLETED

Institution of an Italian Registry and Biobank for Biological Sample Collection

NCT06892964 ·Status: RECRUITING ·Phase: NA

Genetics of Arteriovenous Malformations

NCT02445430 ·Status: UNKNOWN

Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History

NCT04089995 ·Status: COMPLETED