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Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. … neurofibromatosis (nf) is a genetic neurological disorder …
Staff
Dr. Douglas Stewart is an adjunct investigator in NHGRI's Genetic Disease Research Branch.
… of cancer occurrence. dr. stewart's research focuses on neurofibromatosis type 1 (nf1), a common, monogenic disorder … pathogenesis of gastrointestinal stromal tumors (gists) in neurofibromatosis type 1. journal of medical genetics , 44: …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… these include many cancers, as well as some forms of neurofibromatosis . … overview … list of genetic disorders … …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… as marfan syndrome ( learning about marfan syndrome ) and neurofibromatosis ( learning about neurofibromatosis ). to …
Staff
Dr. Francis Collins is a senior investigator in Medical Genomics and Metabolic Genetics Branch.
… genes, including those responsible for cystic fibrosis, neurofibromatosis , huntington's disease, a familial … fs. physical mapping of a translocation breakpoint in neurofibromatosis. science, 244, 1085-1087. 1989. [ pubmed ] …
Research Training
One-year residency in Medical Biochemical Genetics that trains physicians to diagnose, manage and counsel patients with metabolic genetic disorders.
… syndrome cynthia j. tifft, m.d., ph.d. natural history of neurofibromatosis , type i, cleft lip and palate disorders, …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… exome sequencing and copy-number variation analysis of 20 neurofibromatosis type 2-associated spinal and cranial …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… widemann bc, wilson af, stewart dr. genetic modifiers of neurofibromatosis type 1-associated cafe-au-lait macule count …