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Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… porphyrias include the following types: Also called congenital porphyria. This is a rare disorder that mainly …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… and genetic diseases in people of diverse ancestry." Congenital malformations , also known as birth defects, are …
File
… C, Yoganathan S. a Case Report of a Child with Congenital Lymphoproliferative Disease Type 2, Presented with … N, Thewarapperuma C. a Case Report of a Child with Congenital Amegakaryocytic Thrombocytopenia. 2020. (In … NE, Ernestine Kubi EA, Akyaw PA. Systematic Review of Congenital, Genetic and Rare Disorders Reported in Ghana. …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… genes in NF1-associated plexiform neurofibromas (PNs), congenital tumors affecting up to 50 percent of people with …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… tube defects (NTDs) and other birth defects. NTDs and congenital heart defects are some of the most common birth …
File
… P et al. Loss of heterozygosity in children with multiple congenital anomaly. 2017. (In preparation). 4. Ariani Y , Priambodo R et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In … M et al. Genomic and Environmental Factors Influencing Congenital Heart Disease Risk in Africa. (Submitted to …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Brown LH, Merideth M , Owen CM, et al. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… the identification of genes for Mendelian syndromes (e.g., congenital cataracts, Cranio-Lenticulo-Sutural-Dysplasia), 2) …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Health NIH Common Fund's Kids First WGS Data for Congenital Cranial Dysinnervation Disorders Available NIH …