Search Results

1 - 10 of 11
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
Manfred Boehm received his M.D. in 1993 from the University of … in 1999 and has been an investigator since 2003. Dr. Boehm received a Foundation for Advanced Education in the … 2014. [ PubMed ] … Biography … Publications … Manfred Boehm, M.D. … Dr. Manfred Boehm is a an adjunct …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… vessel development. Members of the research team led by Manfred Boehm, M.D., senior investigator at the National Heart, Lung, … patients. Dan Yang, M.D., Ph.D., a staff scientist in Dr. Boehm's lab, discovered that ADA2 deficiency causes a faulty …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… conditions. … Rossignol F , Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, et al. Quantitative analysis of …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Early-onset stroke and … HL, Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae JJ, Laxer RM, … Remmers EF, Chae JJ, Jam Mullikin JC, Güzel F, Milner JD,Boehm M, Rosenzweig SD, Gadina M, Welch SB, Ozen S, Topaloglu …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield M, Boehm M, Kastner DL, Aksentijevich I. Early-onset stroke and … van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, … T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M,Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… J, Toro C, Cudrici C, Nehrebecky M, Romeo T, Jones A, Boehm M, Kanakry JA, Dimitrova D, Calvo KR, Alao H, Kapuria …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… Read the Article Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, …
Staff
Dr. Shawn Burgess is the deputy director of NHGRI's Intramural Research Program.
… EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield M, Boehm* M, Kastner, DL, Aksentijevich I. Early-Onset Stroke …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… HC, Zdebik A, Chaganti K, Nussbaum R, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications . N Engl …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… M., Campbell, H., Chakravarti, A., Chines, P. S., Claudi-Boehm, S., Collins, F. S., Crawford, D. C., Danesh, J., de … Wilson, J. F., Witteman, J. C., Adair, L. S., Bochud, M., Boehm, B. O., Bornstein, S. R., Bouchard, C., Cauchi, S., … P., Asselbergs, F. W., Assimes, T. L., Bochud, M., Boehm, B. O., Boerwinkle, E., Bornstein, S. R., Bottinger, E. …