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16篇 您的检索式：作者名="Bochukova"

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		题名	作者	年代	出处	被引量
	1	Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily 显示文摘	Bochukova EG Roscioli T Hedges D J	2009	Hum Murat2009，30，2：	1
	2	A mutation in the thyroid hormone receptor alpha gene显示文摘	Bochukova E Schoenmakers N Agostini M	2012	N Engl J Med2012，366，：	1
	3	Clinical dividends from the molecular genetic diagnosis of craniosynostosis显示文摘	Wilkie AO Bochukova EG Hansen RM	2007	Am J Med Genet A2007，143，16：	1
	4	Large, rare chromosomal deletions associated with severe early-onset obesity 显示文摘	Bochukova EG Huang N Keogh J	2010	Nature2010，463，7281：	1
	5	Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity 显示文摘	Wheeler E Huang N Bochukova EG	2013	Nat Genet2013，45，5：	1
	6	A mutation in the thyroid hormone receptor alpha gene显示文摘	Bochukova E Schoemnakers N Agostini M	2012	N Engl J Med2012，366，3：	1
	7	Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion,and an Alu element insertion from a new subfamily显示文摘	Bochukova E G Roscioli T Hedges D J	2009	Hum Murat2009，30，2：	1
	8	Large,rare chromosomal deletions associated with severe early-onset obesity显示文摘	Bochukova EG Huang N Keogh J	2010	Nature2010，463，7281：	1
	9	Clinical dividends from the molecular genetic diagnosis of craniosynostosis 显示文摘	Wilkie AOM Bochukova EG Hansen RM	2007	Am J Med Genet2007，143，16：	1
	10	Human SH2B1 mutations are associated with maladaptive behaviors and obesity显示文摘	Doche Michael E Bochukova Elena G Su Hsiao-Wen Pearce Laura R Keogh Julia M Henning Elana Cline Joel M Dale Anne Cheetham Tim Barroso Inês Argetsinger Lawrence S O’Rahilly Stephen Rui Liangyou Carter-Su Christin Farooqi I Sadaf	2012	Journal of Clinical Investigation2012，，12：	1
	11	Clinicaldividends from the molecular genetic diagnosis of craniosyn-ostosis 显示文摘	Wilkie AO Bochukova EG Hansen RM	2006	Am J Med Genet A2006，140，23：	1
	12	Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syn- drome显示文摘	Twigg SR Kan R Babbs C Bochukova EG Robertson SP WaU SA	2004	Proc Natl Acad Sci USA2004，101，：	1
	13	A mutation in the thyroid hormone receptor alpha gene显示文摘	Bochukova E Schoenmakers N Agostini M Schoenmakers E Rajanayagam O Keogh JM Henning E Reinemund J Gevers E Sarri M Downes K Offiah A Albanese A Halsall D Schwabe JW Bain M Lindley K Muntoni F Vargha-Khadem F Dattani M Farooqi IS Gurnell M Chatterjee K		0，，：	1
	14	Large, rare chromosomal deletions associated with severe early-onset obesity 显示文摘	Bochukova EG Huang N Keogh J	2010	Nature2010，463，：	1
	15	Human SH2B1 mutations are associated with maladaptive behaviors and obesity 显示文摘	Doche ME Bochukova EG Su HW	2012	J Clin Invest2012，122，：	1
	16	Rare mutations of FGFR2 causing apert syndrome= identification of the first partial gene deletion, and an Alu element insertion from a new subfamily 显示文摘	Bochukova EG Roscioli T Hedges DJ	2009	Hum Mutat2009，30，：	1

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