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17篇 您的检索式：作者名="Maldergem"

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		题名	作者	年代	出处	被引量
	1	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two sibllngs显示文摘	Maldergem L V Tuerlinckx D Wanders R J	2000	Eur J Pediatr2000，159，12：	1
	2	Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study 显示文摘	Hardcastle A J Thiselton D L Van Maldergem L	1999	Am J Hum Genet1999，64，4：	1
	3	Exome sequencing in Brown-Vialetto-van Laere syndrome显示文摘	Johnson JO Gibbs JR Van Maldergem L		0，，04：	1
	4	Homozygosity for a missense mutation in fibulin - 5 ( FBLN5 ) results in a severe form of eutis laxa 显示文摘	Loeys B Van - Maldergem L Mortier G	2002	Hum Mol Genet2002，11，18：	1
	5	Geno- type-phenotype relationships in Berardinelli-Seip congeni- tal lipodystrophy显示文摘	Van Maldergem L Magre J Khallouf TE	2002	J Med Genet2002，39，10：	1
	6	Mutations in the RP2 gene cause disease in 10%of families with familial X-linked retinitis pigmentosa assessed in this study显示文摘	Hardcastle A J Thiselton D L Van Maldergem L	1999	American Journal of Human Genetics1999，64，4：	1
	7	Homozygosity for a missense mutation in fibulin-5(FBLN5) results in a severe form of cutis laxa显示文摘	Loeys B Van Maldergem L Mortier G	2002	Human Molecular Genetics2002，11，18：	1
	8	3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis显示文摘	Jaeken J Detheux M Van Maldergem L	1996	Arch Dis Child1996，74，6：	1
	9	Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up1显示文摘	Etienne M. Sokal Fran?oise Smets Annick Bourgois Lionel Van Maldergem Jean-Paul Buts Raymond Reding Jean Bernard Otte Veerle Evrard Dominique Latinne Marie Fran?oise Vincent Anne Moser Humberto E. Soriano	2003	Transplantation2003，，4：	1
	10	Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa显示文摘	Loeys B Van Maldergem L Mortier G	2002	Hum Mol Genet2002，11，18：	1
	11	Homozygosity for a missense mutation in fibulin-5(FBLN5) results in a severe form of cutis laxa显示文摘	Loeys B Van Maldergem L Mortier G	2002	Human Molecular Genetics2002，11，18：	1
	12	Genotype-phenotype re- lationships in Berardinelli-Seip congenital lipodystrophy 显示文摘	van Maldergem L Magr6 J Khallouf TE	2002	J Med Genet2002，39，10：	1
	13	Mapping the RP2 locus for X- linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping 显示文摘	Thiselton DL Hampson RM Nayudu M Van Maldergem L Wolf ML Saha BK	1996	Genome Res1996，6，11：	1
	14	Mutations in the RP2 gene caause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study显示文摘	HARDENSTLE A J THISEITON D L VAN MALDERGEM L	1999	Am J Hum Genet1999，64，4：	1
	15	Revisiting the eraniownostosis-radial ray hypoplasia association: Bailer- Get'old syndrome caused by mutations in the RECQIA gene显示文摘	Van Maldergem L Siitonen HA Jalkh N	2006	J Med Genet2006，43，2：	1
	16	Revisiting the craniosynostosis-radial ray hypoplasia association: BallerGerold syndrome caused by mutations in the RECQIA gene 显示文摘	Van Maldergem L Siitonen HA Jalkh N	2006	J Med Genet2006，43，2：	1
	17	AIPL1突变患者先天性Leber黑蒙表现型显示文摘目的:叙述26例先证者中芳香族羟基碳氢化合物受体蛋白样1蛋白质(AIPL1)突变的先天性Leber黑蒙(LCA)的表现型,并比较其他LCA相关性基因的表现型。叙述杂合子携带者的视网膜电图(ERG)。	Sharola Dharmaraj Ban P. Leroy Melanie M. Sohocki Robert K. Koenekoop Isabelle Perrault Khalid Anwar Shagufta Khaliq R. Summathi Devi David G. Birch Elaine De Pool Natalio Izquierdo Lionel Van Maldergem Mohammad Ismail Annette M. Payne Graham E. Holder Shomi S. Bhattacharya Alan C. Bird Josseline Kaplan Irene H. Maumenee 刘欣怡(译)	2005	美国医学会眼科杂志(中文版)2005，17，2：	0

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