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16篇 您的检索式：作者名="Numakura C"

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		题名	作者	年代	出处	被引量
	1	Mitochondrial GTPasemitofusin 2 mutation in Charcot-marie-tooth neuropathy type 2A显示文摘	Kijima K Numakura C Izumino H	2005	Hum Genet2005，116，12：	1
	2	Association of the uteroglobin gene- polymorphism with IgA nephropathy 显示文摘	Matsunaga A Numakura C Kawakami T	2002	Am J Kidney Dis2002，39，1：	1
	3	Mitochondrial GTpase mito- fusin 2 mutation in Charcot-marie-tooth neuropathy type 2A 显示文摘	Kijima K Numakura C Izumino H	2005	Hum Genet2005，116，1：	1
	4	Structural investigation of thorium in molten lithiumecalcium fluoride mixtures for salt treatment process in mol- ten salt reactor显示文摘	Numakura M Sato N Bessada C	2011	Progress in Nuclear Energy2011，53，：	1
	5	Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated ease 显示文摘	Numakura C Sasaki A	2002	Tohoku J Exp Med2002，196，4：	1
	6	Me- dium - chain triglyceride supplementation under a low - carbohydrate formula is a promising therapy for adult - on- set type II eitrullinemia显示文摘	HAYASAKA K NUMAKURA C TOYOTA K	2014	Mol Genet Metab Rep2014，，1：	1
	7	Treatment with lactose(ga-lactose)-restricted and medium-chain triglyeeride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency 显示文摘	Hayasaka K Numakura C Toyota K	2012	JIMD Rep2012，2，：	1
	8	Association of the uteroglobin genepoly morphism with IgA nephropathy显示文摘	Matsunaga A Numakura C Kawakami T	2002	Am J Kidney Dis2002，39，1：	1
	9	Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease:nonsense mutation probably causes a recessive phenotype显示文摘	Abe A Numakura C Saito K	2009	J Hum Genet2009，54，2：	1
	10	Association of the uteroglobin gene polymorphism with IgA nephropathy显示文摘	MASTUNAGA A NUMAKURA C KAWAKAMI T	2002	Am J Kidney Dis2002，39，：	1
	11	Treatment with lactose (galactose)-restrieted and medium-chain triglyceride- supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency显示文摘	Hayasaka K Numakura C Toyota K	2012	JIMD Rep2012，2，：	1
	12	Mitochondrial GT- pase mitofusin 2 mutation in Charcot-marie-tooth neuropathy type 2A显示文摘	Kijima K Numakura C Izumino H	2005	Hum Genet2005，116，：	1
	13	Treatment with lac- tose (galactose)-restricted and medium-chain triglyceride-sup- plemented formula for neonatal intrahepatic cholestasis causedby citrin defieiency显示文摘	Hayasaka K Numakura C Toyota K	2012	JIMD Rep2012，2，：	1
	14	Mitochondrial GTPasemitofusin 2 mutation in Charcot-Marie- Tooth neuropathy type 2A显示文摘	Kijima K t Numakura C Izumino H	2005	Hum Genet2005，116，12：	1
	15	Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy显示文摘	Kijima K Numakura C Goto T	2005	J Hum Genet2005，50，9：	1
	16	Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease显示文摘	Kijima K Numakura C Shirahata E	2004	J Hum Genet2004，49，7：	1

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