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45篇 您的检索式:作者名="Le Merrer M"
    题名 作者 年代 出处 被引量
1Fibrodysplasia ossificans progressiva 显示文摘Kaplan F S Le Merrer M Glaser D L 2008Best Pract Res Clin Rheumatol2008,22,1:1
2The molecular basis of X-linked spondyloepiphyseal dysplasia tarda显示文摘Gedeon AK Tiller GE Le Merrer M 2001Am J Hum Genet2001,68,6:1
3X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families显示文摘Fiedler J Le Merrer M Mortier G 2004Hum Murat2004,24,1:1
4A gene for hereditary multiple exostoses maps to chromosome 19p显示文摘Le Merrer M Legeai-Mallet L Jeannin PM 1994Hum Mol Genet1994,3,:1
5A gene for hereditary multiple exostoses maps to chromosome 19p显示文摘Le Merrer M Legeai -Mallet L Jeannin P M 1994Hum Mol Genet1994,3,5:1
6Delayed freezing on water repellent materials 显示文摘TOURKINE P LE MERRER M QUI~RI~ D 2009Langmuir2009,25,13:1
7Genotypephenotype correlation in hereditary multiple exostoses显示文摘FrancannetC Cohen Tanugi A Le Merrer M 2001Med Genet2001,38,7:1
8Wolcott - Rallison syndrome:A case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy 显示文摘Castelnan P Le Merrer M Diatloff - Zito C 2000Eur J Pediatr2000,159,8:1
9Genotype-phenotype correlation in hereditary multiple exostoses显示文摘Francannet C Cohen-Tanugi A Le Merrer M 2001Med Genet2001,38,7:1
10Prezygotic origin of the isochromosome 12p in PalIister-KilIian syndrome显示文摘Cormier-Daire V Le Merrer M Gigarel N 1997Am J Med Genet1997,69,2:1
11Ellis-van Creveld syndrome 显示文摘Baujat G Le Merrer M 2007Orphanet J Rare Dis2007,4,2:1
12The molecular basis of X-linked spondyloepiphyseal dysplasia tarda显示文摘GEDEON AK TILLER GE LE MERRER M 2001American Journal of Human Genetics2001,68,6:1
13A gene for here- ditary multiple exostoses maps to chromosome 19p显示文摘Le Merrer M Legeai-Mallet L Jeannin PM 1994Hum Mol Genet1994,3,5:1
14Genotype-phenotype correlation in hereditary multiple exostoses 显示文摘Francannet C Cohen-Tanugi A Le Merrer M 2001J Med Genet2001,38,7:1
15Genotype-phenotype correlation in hereditary multipleexostoses 显示文摘Francannet C Cohen-Tanugi A Le Merrer M 2001J Med Genet2001,38,7:1
16Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia显示文摘Heuertz S Le Merrer M Zabel B Wright M Legeai-Mallet L Cormier-Daire V 2006Eu[J Hum Genet2006,14,12:1
17Genotype-phenotype correlation in hereditary multiple exostoses 显示文摘Francannet C Cohen-Tanugi A Le Merrer M 2001J Med Genet2001,38,7:1
18and Munnich, A 显示文摘Rousseau F Bonaventure J Legeal - Mallet L Pelet A Rozet J - M Maroteaux P Le - Merrer M 1994Nature1994,371,:1
19Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondro- plasia显示文摘HEUERTZ S LE MERRER M ZABEL B Eur J Hum Genet0,14,12:1
20The molecular basis of X- linked spondyloepiphyseal dysplasia tarda显示文摘Gedeon AK Tiller GE Le Merrer M 2001Am J Hum Genet2001,68,6:1
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