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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+181 more
Simons SearchlightNCT01238250
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) path…
RAS MutationNeurofibromatosis 1Noonan Syndrome+11 more
Children's Hospital Medical Center, CincinnatiNCT04395495