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American Journal of Medical Genetics. Part A|May 27, 2010
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite populationKym M Boycott, Chandree Beaulieu, Erik G Puffenberger, et al.
American Journal of Human Genetics|October 18, 2008
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10Eric A Sherman, Kevin A Strauss, Silvia Tortorelli, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 31, 2003
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of PennsylvaniaD Holmes Morton, Caroline S Morton, Kevin A Strauss, et al.
Clinical Immunology (Orlando, Fla.)|April 30, 2008
Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiencyKevin A Strauss, Erik G Puffenberger, Nancy Bunin, et al.
The New England Journal of Medicine|March 31, 2006
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2Kevin A Strauss, Erik G Puffenberger, Matthew J Huentelman, et al.
Bone|April 21, 2015
Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structureElizabeth A Streeten, Sheila Ramirez, Myrto Eliades, et al.
American Journal of Medical Genetics. Part A|September 15, 2005
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite populationKevin A Strauss, Erik G Puffenberger, David W Craig, et al.
American Journal of Medical Genetics. Part A|April 20, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster CountyMegan T Lynch, Kristin A Maloney, Toni I Pollin, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2011
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset strokeBaozhong Xin, Stephen Jones, Erik G Puffenberger, et al.
Molecular Genetics and Metabolism|January 12, 2010
Classical maple syrup urine disease and brain development: principles of management and formula designKevin A Strauss, Bridget Wardley, Donna Robinson, et al.
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