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27篇 您的检索式：作者名="Sambuughin N"

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	题名	作者	年代	出处	被引量
1	Mitochondrial DNA analysis of Mongolian populations and implications for the origin of new world founders显示文摘	Kolman CJ Sambuughin N Bermingham E	1996	Genetics1996，142，：	1
2	Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene显示文摘	Sambuughin N de Bantel A McWilliams S	2003	Neurology2003，60，：	1
3	Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23 显示文摘	Shatunov A Sambuughin N Jankovic J	2006	Brain2006，129，：	1
4	Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V显示文摘	Antonellis A Ellsworth RE Sambuughin N	2003	Am J Hum Genet2003，72，5：	1
5	North Americann Ilialignant hypertherm ia population:Screening of the ryanodine receptor gene and identification of novel mutation显示文摘	Sambuughin N Sei Y Gallagher KI	2001	Anesthesiology2001，95，：	1
6	Dominant mutations in KBTBD13,a member of the BTB/Kelch family,cause nealine myopathy with cores显示文摘	Sambuughin N Yau KS Olive M	2010	Am J Hum Genet2010，87，：	1
7	Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15 显示文摘	Sambuughin N Sivakumar K Selenge B	1998	J Nenrol Sci1998，161，1：	1
8	Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23显示文摘	Shatunov A Sambuughin N Jankovic J	2006	Brain2006，129，：	1
9	Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene显示文摘	Sambuughin N de Bantel A McWilliams S	2003	Neurology2003，60，3：	1
10	Glyeyl tRNA synthetase mulations in Char cot-Marie-Tooth disease type 2D and distal spinal muscular at rophy type Ⅴ 显示文摘	Antonellis A Ellsworth R E Sambuughin N Puls I Abel A Lee Lin S Q	2003	Am J Hum Genet2003，72，：	1
11	North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations 显示文摘	Sambuughin N Sei Y Gallagher K L	2001	Anesthesiology2001，95，3：	1
12	A pro- tocol comparison for the analysis of heat shock protein A1B +A1538G SNP显示文摘	Contreras-Sesvold C L Sambuughin N Blokhin A	2010	Cell Stress Chaperones2010，15，2：	1
13	North Americann malignant hyperthermia population:Screening of the ryanodine receptor gene and identification of novel mutation显示文摘	Sambuughin N Sei Y Gallagher KL	2001	Anesthesiology2001，95，：	1
14	Single-aminoacid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype显示文摘	Sambuughin N McWilliams S de Bantel A	2001	Am J Hum Genet2001，69，20：	1
15	Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population 显示文摘	Sambuughin N Muldoon S Barbara BW	2005	Anaesthesiology2005，102，3：	1
16	Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene显示文摘	Sambuughin N de Bantel A McWilliams S	2003	Neurology2003，60，3：	1
17	Mitochondrial DNA analysis of Mongolian populations and implications for the origin of new world founders显示文摘	KOLMAN C J SAMBUUGHIN N BERMINGHAM E	1996	Genetics1996，142，：	1
18	Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V显示文摘	Antonellis A Ellsworth R E Sambuughin N	2003	Am J Hum Genet2003，72，5：	1
19	Glyeyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V 显示文摘	Antonellis A Ellsworth RE Sambuughin N	2003	Am J Hum Genet2003，72，5：	1
20	Glycyl-tRNA synthetase mutations in charcot-marie-tooth disease type 2D and distal spinal muscular atrophy type V显示文摘	Antonellis A Ellsworth R E Sambuughin N	2003	Am J Hum Genet2003，72，5：	1

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