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Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism National Institute of Neurological Disorders and Stroke National Institute of Mental Health Eunice Kennedy …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… C, Zavialov AV, Stone DL , Chae JJ, et al. Early Onset stroke and vasculopathy associated with mutations in ADA2 . …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… at the National Institute of Neurological Disorders and Stroke (NINDS), the NIH Clinical Center, the Boston …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… difficult for blood to flow leading to heart attack and stroke. The first step in treatment for an individual who has …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… of the National Institute of Neurological Diseases and Stroke, co-chair the UDN working group. The Undiagnosed …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… adenosine deaminase 2 (ADA2) in patients with early-onset stroke, vasculopathy, and fever. The underlying condition is … MS, Boehm M, Kastner DL, Aksentijevich I. Early-onset stroke and vasculopathy associated with mutations in ADA2. N …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… failure, breast cancer, liver disease, autoimmune disease, stroke, birth defects and neurodevelopmental disorders. They …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… The National Institute of Neurological Disorders and Stroke (NINDS) is funding Dr. Thompson's grant. The grant …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced the next phase of a …