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23篇 您的检索式：作者名="Pulst SM"

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	题名	作者	年代	出处	被引量
1	Alternative transcripts in the mouse neurofibromatosis type 2 (NF2)gene are conserved and code for schwannomins with distinct C-terminal domains 显示文摘	Huynh DP Nechiporuk T Pulst SM	1994	Hum Mo Genet1994，3，7：	1
2	MoleculaRdefinition of a re-gion of chromosome 21 that causesfeaturesofthe Down syndrome phenotype显示文摘	KAWASHIMAH PULST SM	1990	Am J Hum Genet1990，47，2：	1
3	Neurogenetics:single gene disorders显示文摘		2003	J Neurol Neurosurg Psychiatry2003，74，12：	1
4	Moderate expansion of a nomally biallelic trinucleotide repeat in spinocerebellar ataxia type2 显示文摘	Pulst SM Neehiporuk A Neehiporuk T	1996	Nat Genet1996，14，：	1
5	Moderate expansion of a normary bialletc trinucleotide repeat in spinocerebellar ataxia type 2显示文摘	Pulst SM Nechiporuk A Nechiporuk T	1996	Nat Genet1996，14，：	1
6	Molecular definition of a region of chromo-somal 21 that causes features of the Down syndrome phenotype显示文摘	Korenberg JR Kawashima H Pulst SM	1990	Am J Hum Genet1990，47，：	1
7	Familial multisystem degenera-tion with parkinsonism associated with the 11778 mitochondrial DNAmutation显示文摘	Simon DK Pulst SM Sutton JP	1999	Neurology1999，53，：	1
8	Dystonia-associated forms of torsinA are deficient in ATPase activity显示文摘	Konakova M Pulst SM	2005	J Mol Neurosci2005，25，1：	1
9	Molecular definition of a re-gion of chromosome 21 that causesfeaturesofthe Down syndrome phenotype显示文摘	Korenberg JR KawashimaH Pulst SM	1990	Am J Hum Genet1990，47，2：	1
10	Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2显示文摘	Pulst SM Nechiporuk A Nechiporuk T	1996	Nat Genet1996，14，：	1
11	Molecular definition of a re-gion of chromosome 21 that causesfeaturesofthe Down syndrome phenotype显示文摘	Korenberg JR KawashimaH Pulst SM		0，，02：	1
12	Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation显示文摘	Simon DK Pulst SM Sutton JP	1999	Neurology1999，53，8：	1
13	Mloecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype显示文摘	KOR ENBERG JR KAWASHIMAH PULST SM	1990	Am J Hum Genet1990，47，2：	1
14	Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype显示文摘	Korenberg JR Kawashima H Pulst SM	1990	Am J Hum Genet1990，47，：	1
15	Stablering chromo- some 21 :molecular and clinical definition of thelesion 显示文摘	Falik - Borestein TC Pribyl TM Pulst SM	1992	Am J Med Genet1992，42，1：	1
16	Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2显示文摘	Pulst SM Nechiporuk A Nechiporuk T	1996	Nat Genet1996，14，3：	1
17	Moderate expansion of anormally biallelic trinucleotide repeat in spinocere-bellar ataxia type 2显示文摘	Pulst SM Nechiporuk A Nechiporuk T	1996	Nat Genet1996，14，：	1
18	Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2显示文摘	Pulst SM Nechiporuk A Nechiporuk T	1996	Nat Genet1996，14，3：	1
19	The ortholog of human ataxin-2 is essential for early embryonic patterning in Caenorhabditis elegans 显示文摘	Kiehl TR Shibata H Pulst SM	2000	J Mol Neurosci2000，15，：	1
20	Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2显示文摘	Pulst SM Nechiporuk A Nechiporuk T	1996	Nat Genet1996，14，3：	1

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