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26篇 您的检索式：作者名="HOISCHEN A"

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	题名	作者	年代	出处	被引量
1	De novo muta- tions of SETBP1 cause Schinzel-Giedion syndrome 显示文摘	Hoischen A van Bon BWM Gilissen C	2010	Nature genetics2010，42，6：	1
2	ST AT1 mutations in autosomal dominant chronic mucocutaneous candidiasis显示文摘	van de Veerdonk FL Plantinga TS Hoischen A	2011	N Engl J Med2011，365，1：	1
3	DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation 显示文摘	Engels H Brockschmidt A Hoischen A	2007	Neurology2007，68，10：	1
4	Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta显示文摘	Becker J Semler O Gilissen C Li Y Bolz HJ Giunta C Bergmann C Rohrbach M Koerber F Zimmermann K de Vries P Wirth B Schoenau E Wollnik B Veltman JA Hoischen A Netzer C		0，，：	1
5	ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vascu- lature显示文摘	Collin RW Nikopoulos K Dona M Gilissen C Hoischen A Boonstra FN		Proc NaU Acad Sci USA0，110，24：	1
6	Polymer-stabilized blue phases: promising me- sophases for a new generation of liquid crystal displays显示文摘	NORDENDORF G HOISCHEN A SCHMIDTKE J	2014	Polymers for Advanced Technologies2014，25，11：	1
7	Hysteresis and memory factor of the Kerr effect in bluephases显示文摘	NORDENDORF G LORENZ A HOISCHEN A	2013	Journal of Applied Physics2013，114，17：	1
8	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome显示文摘	Hoischen A van Bon BW Gilissen C	2010	Nat Genet2010，42，：	1
9	DNA microarry analysis identifies candidate regions and genes in unexplained medtal retardation显示文摘	Engels H Brackschmidt A Hoischen A	2007	Neurology2007，68，10：	1
10	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome显示文摘	Hoischen A van Bon BW Gilissen C	2010	Nat Genet2010，42，：	1
11	Frequent loss of chromosome 9,homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas显示文摘	WEBER R G HOISCHEN A EHRLER M		0，，07：	1
12	DNA microarray analysis indentifies candidate regions and genes in unexplained mental retardation显示文摘	Engles H Brockschmidt A Hoischen A	2007	Neurology2007，68，：	1
13	De novo mutations of SETBP1 cause schinzel giedion syndrome显示文摘	Hoischen A van Bon BW Gilissen C	2010	Nat Genet2010，42，6：	1
14	Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing显示文摘	Timal S Hoischen A Lehle L	2012	Hum Mol Genet2012，21，19：	1
15	Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy显示文摘	Nikopoulos K Gilissen C Hoischen A van N ouhuys CE Boonstra FN Blokland EA	2010	AmJ Hum Genet2010，86，2：	1
16	Massively parallel se- quencing of ataxia genes after array-based enrichment 显示文摘	Hoischen A Gilissen C Arts P	2010	Hum Murat2010，31，4：	1
17	Switching perfo rmance of a polymer-st abilized antiferroelectric liquid crystal based on bent-core molecules显示文摘	Atorf B Hoischen A Ros M B	2012	App lied Physics Letters2012，100，22：	1
18	STAT1 mutations in autosomal dominant chronic mueoeuta- neous candidiasis显示文摘	van de Veerdonk FL Plantinga TS Hoischen A	2011	N Eng/ J Med2011，365，1：	1
19	Amplified segment in the Down syndrome critical region ' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2显示文摘	Canzonetta C Hoischen A Giarin E	2012	Br J Haematol2012，157，2：	1
20	Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy显示文摘	Nikopoulos K Gilissen C Hoischen A		0，，2：	1

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