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16篇 您的检索式：作者名="Indelman M"

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		题名	作者	年代	出处	被引量
	1	A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis显示文摘	Topaz O Indelman M Chefetz I	2006	Am J Hum Genet2006，79，4：	1
	2	Identification of mutations in the human hairless gene in two new families with congenital atrichia 显示文摘	Betz RC Indelman M Pforr J	2007	Arch Dermatol Res2007，299，3：	1
	3	Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred显示文摘	Specktor P Cooper JG Indelman M	2006	J Hum Genet2006，51，5：	1
	4	Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions显示文摘	Bergman R Lestringant GG	2003	Br J Dermatol2003，148，3：	1
	5	Information fusion innavigation systems via factor graph based incremental smoothing显示文摘	Indelman V Williams S Kaess M	2013	Robotics and Autonomous Systems2013，61，8：	1
	6	Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome显示文摘	Gok F Chefetz I Indelman M		0，，1：	1
	7	Novel mutations in DSG1 causing striate palmoplantar keratoderma 显示文摘	Hershkovitz D Lugassy J Indelman M	2009	Clin Exp Dermatol2009，34，2：	1
	8	A deleterious mutation in SAMD9 causes normophosphatemie familial tumoral ealeinosis 显示文摘	Topaz O Indelman M Chefetz I	2006	Am J Hum Genet2006，79，4：	1
	9	A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease显示文摘	AVITAN-HERSH E MANDEL H INDELMAN M	2011	Am J Dermatopathol2011，33，1：	1
	10	Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis显示文摘	Yancovitch A Hershkovitz D Indelman M		0，，：	1
	11	Information fusion in navigation systems via factor graph based incremental smoothing显示文摘	Indelman V Williams S Kaess M	2013	Robotics and Autonomous Systems2013，61，8：	1
	12	Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred显示文摘	Speektor P Cooper JG Indelman M	2006	J Hum Genet2006，51，5：	1
	13	Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred显示文摘	Specktor P Cooper JG Indelman M		0，，5：	1
	14	Molecular epidemiology of hereditary epidennolysis buUosa in a Middle Eastern population显示文摘	ABU SAD J INDELMAN M PFENDNER	2006	J Invest Dermatol2006，126，2：	1
	15	Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14显示文摘	Harel A Bergman R Indelman M	2006	J Invest Dermatol2006，126，7：	1
	16	在12p11.2-q13鉴定出与先天性隐性鱼鳞病有关的新位点显示文摘Congenital recessive ichthyoses represent a vast and markedly heterogeneous group of diseases that have been mapped to at least seven distinct chromosomal loci. In this study, we ascertained two consanguineous families presenting with congenital ichthyosis. Using homozygosity mapping,we identified a 6.5 cM homozygous region on 12p11.2- q13 shared by all affected individuals. Multipoint logarithmof odds ratio (LOD)- score analysis placed the new locus between markers D12S345 and D12S390 with a maximum LOD score of 4.79 at marker CH12SSR13. This region harbors PPHLN1, encoding periphilin 1, a protein involved in the cornification process. No deleterious mutations were identified within the coding region of this gene, suggesting the existence of another gene associated with epidermal differentiation on 12p11.2- q13.	Mizrachi-Koren M. Geiger D. Indelman M E. Sprecher 罗素菊	2006	世界核心医学期刊文摘(皮肤病学分册)2006，2，9：	0

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