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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in … including cleft palate, heart defects, a characteristic facial appearance and learning problems, healthcare providers …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… of Health, and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in … an average age of 8 years; almost half were female. Using facial analysis software and clinical criteria, the … facial analysis, facial analysis software, facial recognition, Atlas of Human Malformation Syndromes in Diverse …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present … … Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present … syndrome may include the following: A characteristic facial appearance. Short stature. Heart defect present at …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Asian and Latin American countries, both clinically and by facial analysis technology, developed by Children's National … symptoms include intellectual disability and distinctive facial features, including puffiness around the eyes, a short … in Diverse Populations, diverse populations, facial recognition … NHGRI researchers and their international …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate … syndrome, another very rare disorder characterized by facial paralysis Normal myoblasts (early muscle cells with a … characteristics of Moebius syndrome and other congenital facial weakness disorders. Toward this end, the consortium …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head … birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head … is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… didn't know what caused their children to have weak facial muscles, cleft palates and curvature of the spine. Nor … children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya set such a good example," …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… been around for centuries, but has only gained scientific recognition and support in the past 30 years. … …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… programs in the world devoted to genetics and genomics. In recognition of his significant contributions to the research … programs in the world devoted to genetics and genomics. In recognition of his significant contributions to the research …
FAQ
Frequently asked questions about the annual Outstanding Award for Enhancing DEIA in the Genomic Workforce.
… who belong to underserved communities. I nclusion  is the recognition, appreciation, and use of the talents and skills … associated with the awards program. Honorific awards of recognition will be offered to one individual/group in each …