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Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
Condition(s):Intellectual Disability; Multiple Congenital Anomaly; Rare DiseasesLast Updated:February 8, 2018Unknown status
Abnormalities, Multiple: 4816 Clinical Trials, Page 1 of 482
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2
The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
Condition(s):Multiple AbnormalitiesLast Updated:July 2, 2017Completed
3
Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Condition(s):Intellectual Disability; Congenital AbnormalitiesLast Updated:March 23, 2017Completed
4
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Condition(s):Multiple Anomalies; Dysmorphic Features; Inborn Errors of MetabolismLast Updated:January 14, 2021Completed
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Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Condition(s):Fraser Syndrome; Fryns Syndrome; Chromosomal Abnormalities; Abnormalities, MultipleLast Updated:March 4, 2008Completed
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Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Condition(s):Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.Last Updated:November 26, 2013Available
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Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Condition(s):Genetic Disease; Genetic SyndromeLast Updated:November 16, 2022Recruiting
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Genetic Inclusion by Virtual Evaluation
Condition(s):Birth Defects; Multiple Congenital Anomaly; Neurodevelopmental DisordersLast Updated:March 20, 2023Recruiting
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Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Condition(s):Intellectual Disability; Autism; Multiple Congenital AnomaliesLast Updated:February 12, 2018Completed
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AMNIOmics: A Prenatal Rapid Genome Validation Study
Condition(s):Multiple Anomalies of Fetus; Genetic Predisposition Suspected; Amniocentesis Affecting Fetus or Newborn; Family MembersLast Updated:June 28, 2023Not yet recruiting