Clinical Significance and Coexistence of Polymorphisms of Individual Collagen-coding Genes

Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

NCT01630460 ·Status: RECRUITING

Molecular Associations With Reproductive Failure

NCT00298116 ·Status: COMPLETED

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

NCT01907425 ·Status: TERMINATED ·Phase: NA

Genetic Analysis to Predict the Development of Paget's Disease

NCT05309954 ·Status: ACTIVE_NOT_RECRUITING

Suitability of Some Data Quality Controls Thresholds for Genetic Association Studies of Admixed Population

NCT02770001 ·Status: WITHDRAWN

Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies

NCT05185414 ·Status: UNKNOWN ·Phase: NA

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NCT05548881 ·Status: WITHDRAWN

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

NCT01193088 ·Status: RECRUITING

Clinical Presentation of Genetic Disorders in Patients Attending Genetic Outpatient Clinic of Assiut University Children Hospital

NCT05888155 ·Status: UNKNOWN

Molecular Genetic Study of Avascular Necrosis of the Femoral Head

NCT00260897 ·Status: UNKNOWN

Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults With Intellectual Disability

NCT06630195 ·Status: NOT_YET_RECRUITING

Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing

NCT02067962 ·Status: COMPLETED ·Phase: NA

Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin

NCT05767203 ·Status: RECRUITING ·Phase: NA

Genetic Study of Familial Epilepsy

NCT00006059 ·Status: COMPLETED

Study of Clinical and Molecular Manifestations of Genetic Disorders

NCT00001466 ·Status: COMPLETED

Genomics of Fibrin Clot Structure in Patients With Constitutional Dysfibrinogenemia

NCT05233384 ·Status: ACTIVE_NOT_RECRUITING

Clinical and Genetic Markers of Bone Metabolism in Children Under One Year

NCT05375331 ·Status: UNKNOWN

Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study

NCT02862808 ·Status: COMPLETED

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

Genetic Etiology in Patients With Cerebral Palsy

NCT05123768 ·Status: COMPLETED

Genetics of Mendelian Forms of Young Onset Alzheimer Disease

NCT01622894 ·Status: COMPLETED ·Phase: NA

Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.

NCT06706934 ·Status: NOT_YET_RECRUITING

Identification and Characterization of Bone-related Genetic Variants in Families

NCT02762318 ·Status: TERMINATED

Genetics of Ehlers-Danlos Syndrome

NCT03093493 ·Status: COMPLETED

Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France

NCT02900482 ·Status: COMPLETED