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12篇 您的检索式：作者名="Splendore A"

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		题名	作者	年代	出处	被引量
	1	TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders显示文摘	Splendore A Passos -Bueno MR Jabs EW	2002	Am J Med Genet2002，111，3：	1
	2	High mutation detection rate in TCO FI among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes显示文摘	Splendore A Silva E O Alonso L G	2000	Hum Mutat2000，16，：	1
	3	High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes显示文摘	Splendore A Silva EO Alonso LG	2000	Hum Mutat2000，16，4：	1
	4	Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle 显示文摘	Splendore A Jabs EW Passos-Bueno MR	2002	J MedGenet2002，39，7：	1
	5	High mutation detection rate in ZCOfl among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes显示文摘	SPLENDORE A SILVA E O ALONSO L G	2000	Hum Mutat2000，16，：	1
	6	TCOF1 mutation da- tabase: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature显示文摘	Splendore A Fanganiello RD Masotti C	2005	Hum Mutat2005，25，5：	1
	7	TCOF1 mutations excluded from a role in other first and second branchial arch - related disorders显示文摘	SPLENDORE A PASSOS BUENO M R JABS E W	2002	Am J Med Genet2002，111，3：	1
	8	Wholegenome array CGH indentifies novel contiguous gene deletions and duplications associated with deelopmentaldelay,mental retardation,and dysmorphic features显示文摘	Aradhya S Manning MA Splendore A	2007	AmJ Med Genet A2007，143，13：	1
	9	T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements显示文摘	Mansur M B Emerenciano M Splendore A Brewer L Hassan R Pombo-de-Oliveira M S: Brazilian Collaborative Study Group of Infant Acute Leukemia	2010	Leuk Res2010，34，：	1
	10	High mutation detection rate in TCOF1 amongTreacher Collins syndrome patients reveals clusteringof mutations and 16novel pathogenic changes显示文摘	SPLENDORE A SILVA E O ALONSO L G	2000	Hum Mutat2000，16，：	1
	11	TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders显示文摘	Splendore A Passos Bueno MR Jabs EW	2002	Am J Med Genet2002，111，：	1
	12	T-cell lymphoblastic leukemia in early childhood presents NOTCHI mutations and MLL rearrangements 显示文摘	Mansur MB Emerenciano M Splendore A Brewer L Hassan R Pombo-de-Oliveira MS	2010	Leuk Res2010，34，4：	1

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