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Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… focus is on early-onset muscle disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized … that uncovering that cell-cell fusion deficits can lead to congenital myopathies (inherited muscle disease) opens a new path of …
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. William A. Gahl is the Clinical Director for the National Human Genome Research Institute and the director of the NIH Undiagnosed Diseases Program.
… of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which … G, ten Bosch JW, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… with these disorders exhibit various combinations of congenital malformations, overgrowth, birthmarks, … agents to develop approaches to treatment. In contrast to congenital malformations, mosaic overgrowth disorders have a … LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet , 32:175-9. 2002. [ PubMed …