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20篇 您的检索式：作者名="Senderek J"

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	题名	作者	年代	出处	被引量
1	Transient,recurrent,white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation显示文摘	Hanemann CO Bergmann C Senderek J	2003	Arch Neurol2003，60，4：	1
2	Transient,recurrent,white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation显示文摘	Bergmann C Senderek J	2003	Arch Neurol2003，60，：	1
3	Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease(ARPKD/PKHD1)显示文摘	Bergmann C Senderek J Sedlacek B	2003	J Am Soc Nephrol2003，14，1：	1
4	PKHDI mutations in auto- somal recessive polycystic kidney disease (ARPKD) 显示文摘	Bergmann C Senderek J Kuppor F	2004	Hum Mu- tat2004，23，5：	1
5	Spectrum of Mutation in the gene for autosomal recessive polycystic kidney disease显示文摘	Bergmann C Senderek J Sedlace B	2003	J Am Soc Nephrol2003，14，1：	1
6	查看详情显示文摘	Senderek J Bergmann C Stendel C		0，，：	1
7	New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene显示文摘	Zerres K Senderek J Rudnik-Schonebom S	2004	Clin Genet2004，66，：	1
8	PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) 显示文摘	Bergmann C Senderek J Kupper F	2004	Hum Mutat2004，23，：	1
9	Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy 显示文摘	Senderek J Krieger M Stendel C	2005	Nat Genet2005，37，：	1
10	Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)显示文摘	Bergmann C Senderek J Windelen E	2005	Kidney Int2005，67，3：	1
11	Vascular changes in the pcriosteum of congenital pseudarthrosis of the tibia显示文摘	Hermanns-Sachweh B Senderek J Alfer J	2005	Pathol Rcs Pract2005，201，：	1
12	Vascular changes in the periosteum of congenital pseudarthrosis of the tibia显示文摘	Hermanns-Sachweh B Senderek J Alfer J	2005	Pathol Res Pract2005，201，4：	1
13	Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect显示文摘	Senderek J Muller JS Dusl M	2011	Am J Hum Genet2011，88，：	1
14	Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation显示文摘	Hanemann CO Bergmann C Senderek J	2003	Arch Neurol2003，60，4：	1
15	Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation显示文摘	Hanemann CO Bergmann C Senderek J	2003	Arch Neurol2003，60，4：	1
16	Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mu- tation in the Gene Encoding the Nuclear Matrix Protein,Matrin 3 显示文摘	Senderek J Garvey SM Krieger M etal	2009	Am J Hum Genet2009，84，：	1
17	Clinical conse-quences of PKHD1 mutations in 164 patients with autosomal-reces-sive polycystic kidney disease (ARPKD) 显示文摘	Bergmann C Senderek J Windelen E	2005	Kidney Int2005，67，3：	1
18	Mutations in a gene encoding a novel SHg/TPR domain protein cause autosomal recessive Chareot-Marie Tooth type 4C neuropathy显示文摘	Senderek J Bergmann C Stendel C	2003	Am J Hum Genet2003，73，5：	1
19	Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease ( ARPKD/PKHD1 )显示文摘	Bergmann C Senderek J Sedlacek B	2003	J Am Soc Nephrol2003，14，1：	1
20	Hexosamine biosyntheticpathway mutations cause neuromuscular transmission defect 显示文摘	Senderek J Muller JS Dusl M	2011	Am J Hum Genet2011，88，2：	1

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