Your search returned 17 results.

Results
	1.	Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. [electronic resource] by Puffenberger, E G Producer: 20040316 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 121C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene. [electronic resource] by Puffenberger, E G Francomano, C A Producer: 19910528 In: Nucleic acids research vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. [electronic resource] by Xin, B Puffenberger, E Nye, L Wiznitzer, M Wang, H Producer: 20081118 In: Clinical genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. [electronic resource] by Bolk, S Puffenberger, E G Hudson, J Morton, D H Chakravarti, A Producer: 20000127 In: American journal of human genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. [electronic resource] by Shaw, S H Carrasquillo, M M Kashuk, C Puffenberger, E G Chakravarti, A Producer: 19980319 In: Genome research vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. [electronic resource] by Puffenberger, E G Hosoda, K Washington, S S Nakao, K deWit, D Yanagisawa, M Chakravart, A Producer: 19950123 In: Cell vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Molecular genetic analysis in autosomal dominant keratoconus. [electronic resource] by Rabinowitz, Y S Maumenee, I H Lundergan, M K Puffenberger, E Zhu, D Antonarakis, S Francomano, C A Producer: 19921210 In: Cornea vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. [electronic resource] by Angrist, M Bolk, S Thiel, B Puffenberger, E G Hofstra, R M Buys, C H Cass, D T Chakravarti, A Producer: 19950914 In: Human molecular genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. [electronic resource] by Morton, D H Salen, G Batta, A K Shefer, S Tint, G S Belchis, D Shneider, B Puffenberger, E Bull, L Knisely, A S Producer: 20000803 In: Gastroenterology vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. [electronic resource] by Puffenberger, E G Kauffman, E R Bolk, S Matise, T C Washington, S S Angrist, M Weissenbach, J Garver, K L Mascari, M Ladda, R Producer: 19950110 In: Human molecular genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Genetic heterogeneity in families with hereditary multiple exostoses. [electronic resource] by Cook, A Raskind, W Blanton, S H Pauli, R M Gregg, R G Francomano, C A Puffenberger, E Conrad, E U Schmale, G Schellenberg, G Producer: 19930723 In: American journal of human genetics vol. 53 Availability: No items available. Save to lists Add to cart (remove)
	12.	A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. [electronic resource] by Angrist, M Kauffman, E Slaugenhaupt, S A Matise, T C Puffenberger, E G Washington, S S Lipson, A Cass, D T Reyna, T Weeks, D E Producer: 19931105 In: Nature genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. [electronic resource] by Dietz, H C Pyeritz, R E Puffenberger, E G Kendzior, R J Corson, G M Maslen, C L Sakai, L Y Francomano, C A Cutting, G R Producer: 19920526 In: The Journal of clinical investigation vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. [electronic resource] by Innes, A M Boycott, K M Puffenberger, E G Redl, D MacDonald, I M Chudley, A E Beaulieu, C Perrier, R Gillan, T Wade, A Parboosingh, J S Producer: 20110217 In: Clinical genetics vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. [electronic resource] by Dietz, H C Cutting, G R Pyeritz, R E Maslen, C L Sakai, L Y Corson, G M Puffenberger, E G Hamosh, A Nanthakumar, E J Curristin, S M Producer: 19910822 In: Nature vol. 352 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Elective liver transplantation for the treatment of classical maple syrup urine disease. [electronic resource] by Strauss, K A Mazariegos, G V Sindhi, R Squires, R Finegold, D N Vockley, G Robinson, D L Hendrickson, C Virji, M Cropcho, L Puffenberger, E G McGhee, W Seward, L M Morton, D H Producer: 20060606 In: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Fine mapping of the nail-patella syndrome locus at 9q34. [electronic resource] by McIntosh, I Clough, M V Schäffer, A A Puffenberger, E G Horton, V K Peters, K Abbott, M H Roig, C M Cutone, S Ozelius, L Kwiatkowski, D J Pyeritz, R E Brown, L J Pauli, R M McCormick, M K Francomano, C A Producer: 19970123 In: American journal of human genetics vol. 60 Availability: No items available. Save to lists Add to cart (remove)