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News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By adding highly accurate …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … interventions and provide better medical care. "Human malformation syndromes appear different in different parts of the world," …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … researchers will add Noonan syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations , which they launched last …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… Kiara Palmer … Brenda Iriele grew up seeing first-hand the human cost of inadequate healthcare. Raised in Nigeria, a … to assist scientists with building out the Atlas of Human Malformation Syndromes in Diverse Populations , an online resource that …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… Dr. Brooks studies a potentially blinding congenital malformation of the eye called uveal coloboma. The condition … of the optic fissure to close during the fifth week of human gestation. Although the embryology leading to coloboma … He is also studying the role these genes play in human disease and non-ocular phenotypes associated with …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National … approach to heritable disorders, focusing on pleiotropic malformation syndromes and mosaic overgrowth disorders. Over the past 20 …
File
… Ibadan, Nigeria and NIDCD, NIH). 4. Ahmed FD. Atlas of Human Malformation syndromes in Diverse populations (Williams Syndrome, …
File
… NA,… Wiafe SA , Haendel MA, Mungall CJ, Robinson PN . the Human Phenotype Ontology in 2021. 2020. (In Preparation). 35. … , El -Husseini R, Esmail AM, El -Desouky D, et al. Genetic Syndromes with Premature Loss of Teeth: a Retrospectiv e … 12. Dueñas -Roque M , Kruszka P, Muenke M. Atlas of Human Malformation Syndromes in Diverse Populations -Prader Willi …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… The National Human Genome Research Institute is the driving force for … geneticists around the world to create the  Atlas of Human Malformation Syndromes in Diverse Populations . May 10, 2016: The  Center …