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50篇 您的检索式：作者名="Morava"

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	题名	作者	年代	出处	被引量
1	Small inherited terminal duplication of 7q with hydrocephalus,cleft palate,joint con- tractures,and severe hypotonia显示文摘	Morava E Bartsch O Czako M	2003	Clin Dysmorphol2003，12，2：	1
2	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy显示文摘	Fischer J Lefevre C Morava E	2007	Nat Genet2007，39，1：	1
3	Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation显示文摘	Morava E Lefeber D J Urban Z	2008	Eur J Hum Genet2008，16，1：	1
4	Vascular diseases,spina bifida and schizophrenia in a single family associated with the heterozygote mutation of the heat-sensitive variant of methylenetetrahydrofolate reductase显示文摘	Horvath A Morava E Toth G	2001	Orv Hetil2001，142，27：	1
5	Influence of genetic poly- morphisms on bone disease of preterna infants 显示文摘	Funke S Morava E Czako M	2006	Pediatr Res2006，60，：	1
6	Galactose supplementation in phosphoglucomutase-1 deficiency: review and outlook for a novel treatable CDG显示文摘	MORAVA E	2014	Mol Genet Metab2014，112，4：	1
7	Ann Clin Biochem显示文摘	Morava E Kosztolanyi G Engelke U F H Wevers R A	2003	40 (1) : 1082003，40，1：	1
8	Influence of genetic polymorphisms on bone disease of preterm infants显示文摘	Funke S Morava E Czako M	2006	Pediatr Res2006，60，5：	1
9	Carnitine dependent changes of metabolic fuel consumption during long term treatment with valproic acid显示文摘	Melegh B Pap M Morava E	1994	J Pediatr1994，125，：	1
10	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutrallipid storage disease with myopathy 显示文摘	Fischer J Lefevre C Morava E	2007	Nature ( enctics2007，39，：	1
11	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism显示文摘	Morava E Wevers R A Cantagrel V	2010	Brain2010，133，11：	1
12	3-methylglutaconic aciduria type IV :a syndrome with an evolving phenotype显示文摘	Wortmann SB Morava E	2011	CIin Dysmorphol2011，20，3：	1
13	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy显示文摘	Fischer J Lefevre C Morava E	2007	Nat Genet2007，39，1：	1
14	Effects of collagen orientation on MR imaging characteristics of bovine articular cartilage显示文摘	Ruberstein J Kim JK Morava I	1993	Radiology1993，188，：	1
15	From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)显示文摘	Livia Kapusta Nili Zucker George Frenckel Benjamin Medalion Tuvia Ben Gal Einat Birk Hanna Mandel Nadim Nasser Sarah Morgenstern Andreas Zuckermann Dirk J. Lefeber Arjen Brouwer Ron A. Wevers Avraham Lorber Eva Morava	2013	Heart Failure Reviews2013，，2：	1
16	Perinatal and early infantile symptoms in congenital disorders of glycosylation显示文摘	Simone Funke Thatjana Gardeitchik Dorus Kouwenberg Miski Mohamed Saskia B. Wortmann Eckhard Korsch Maciej Adamowicz Lihadh Al‐Gazali Ron A. Wevers Adrienne Horvath Dirk J. Lefeber éva Morava	2013	Am J Med Genet2013，，3：	1
17	Decreased bone mineral density as a risk factor in the development of spinal deformities in neurofibromatosis显示文摘	Halmai V Szasz K Morava E	2001	Orv Hetil2001，142，52：	1
18	The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy显示文摘	Fischer J Lefevre C Morava E		0，，：	1
19	Effect of collagen orientation on MR imaging characteristics of bovine artilage显示文摘	Kim J K Morava P I	1993	Radiology1993，188，：	1
20	Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to poly- merasc gamma ( POLG1 ) mutations 显示文摘	de Vries MC Rodenburg RJ Morava E van Kaauwen EP ter Laak H Mullaart RA	2007	Eur J Pediatr2007，166，3：	1

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