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American Journal of Medical Genetics. Part A|September 17, 2021
Mendelian disease research in the Plain populations of Lancaster County, PennsylvaniaErik G PuffenbergerAnnual Review of Genomics and Human Genetics|July 28, 2009
Genetics, medicine, and the Plain peopleKevin A Strauss, Erik G PuffenbergerAmerican Journal of Public Health|May 19, 2012
One community's effort to control genetic diseaseKevin A Strauss, Erik G Puffenberger, D Holmes MortonAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 31, 2003
Type I glutaric aciduria, part 1: natural history of 77 patientsKevin A Strauss, Erik G Puffenberger, Donna L Robinson, et al.The Journal of Molecular Diagnostics : JMD|April 28, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of PennsylvaniaErin L Crowgey, Michael C Washburn, E Anders Kolb, et al.Proceedings of the National Academy of Sciences of the United States of America|December 19, 2009
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardationBaozhong Xin, Erik G Puffenberger, Susan Turben, et al.American Journal of Medical Genetics|October 12, 2002
Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduriaRichard I Kelley, Donna Robinson, Erik G Puffenberger, et al.Pediatrics|June 4, 2002
Diagnosis and treatment of maple syrup disease: a study of 36 patientsD Holmes Morton, Kevin A Strauss, Donna L Robinson, et al.Nature Genetics|October 2, 2002
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung diseaseMinerva M Carrasquillo, Andrew S McCallion, Erik G Puffenberger, et al.European Journal of Pediatrics|January 26, 2006
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar diseaseKevin A Strauss, Donna L Robinson, Hendrik J Vreman, et al.Pageof 7