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29篇 您的检索式：作者名="Puffenberger"

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	题名	作者	年代	出处	被引量
1	A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome显示文摘	Brian G. Mohney Jose S. Pulido Noralane M. Lindor Marie C. Hogan Mark B. Consugar Justin Peters V. Shane Pankratz Samih H. Nasr Stephen J. Smith James Gloor Vickie Kubly Dorothy Spencer Rebecca Nielson Erik G. Puffenberger Kevin A. Strauss D. Holmes Morto	2011	Ophthalmology2011，，6：	1
2	Type I glutaric aciduria, part 1: natural history of 77 patients显示文摘	Strauss KA Puffenberger EG Robinson DL	2003	Am J Med Genet C Semin Med Genet2003，121，1：	1
3	Genome-wide snp arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of salla disease in an old order mennonite population显示文摘	Strauss KA Puffenberger EG Craig DW	2005	Am J Med Genet A2005，138，3：	1
4	Genetic heritage of the old order mennonites of southeastern Pennsylvania 显示文摘	Puffenberger EG	2003	Am J Med Genet C Semin Med Genet2003，121，：	1
5	A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease显示文摘	Puffenberger EG Hosoda K Washington SS	1994	Cell1994，79，7：	1
6	Type I glutaric aciduria,part 1:natural history of 77 patients显示文摘	Strauss K A Puffenberger E G Robinson D L		American Journal of Medical Genetics Part C:Seminars in Medical Genetics0，，：	1
7	Type I gl- utaric aciduria, part 1 : natural his tory of 77 patients 显示文摘	Strauss KA Puffenberger EG Robinson DL Morton DH	2003	Am J Med Genet C Semin Med Genet2003，，1：	1
8	A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease显示文摘	Puffenberger EG Hosoda K Washington SS	1994	Cell1994，79，7：	1
9	Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2 显示文摘	Strauss K A Puffenberger E G Huentelman M J	2006	N Engl J Med2006，354，13：	1
10	Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania显示文摘	Puffenberger EG	2003	Am J Med Genet C Semin Med Genet2003，121，1：	1
11	A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease显示文摘	Puffenberger EG Hosoda K Washington SS	1994	Cell1994，79，7：	1
12	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT显示文摘	Carlton V E Harris B Z Puffenberger E G	2003	Nat Genet2003，34，1：	1
13	Type I glutaric aciduria, part 1:narural history of 77 patients显示文摘	Strauss KA Puffenberger EG Robinson DL	2003	Am J med genet C Semin Med Genet2003，15，1：	1
14	Marfan Phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene显示文摘	Dietz HC Pyeritz RE Puffenberger EG	1992	Clin Invest1992，89，5：	1
15	Type Ⅰ glutaric aciduria,part 1:natural history of 77 patients显示文摘	Strauss KA Puffenberger EG Robinson DL	2003	Am J Med Genet C Semin Med Genet2003，121，：	1
16	Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function显示文摘	HU-Lince D Parod JM	2004	Proc Natl Acad Sci USA2004，101，11：	1
17	Reces sive symptomatic focal epilepsy and mutant contactin-associated protein-like 2显示文摘	Strauss KA Puffenberger EG Huentelman MJ		0，，13：	1
18	Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome sean and identification of TSPYL loss of function显示文摘	Puffenberger E G Hu-Lince D Parod J M	2004	Proc Natl Acad Sci USA2004，101，11：	1
19	Genetic heritage of the old order mennonites of southeastern Pennsylvania显示文摘	Puffenberger EG	2003	Am J Med Genet C Semin Med Gen- et2003，121，：	1
20	Type I Glutaric Aciduria, Part 1 :Natural History of 77 Patients 显示文摘	Strauss KA Puffenberger EG Robinson DL	2003	Am J Med Genet C Semin Med Genet2003，，：	1

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