|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBRI or TGFBR2显示文摘 | LOEYS B L CHEN I NEPTUNE E R | 2005 | Nat Genet2005，37，3： | 1 |
| 2 | Genotype and phenotype a- nalysis of 171 patients referred for molecular study of the fibrillin-I gene FBN1 because of suspected Marfan syndrome 显示文摘 | Loeys B Nuytinek L Delvaux I | 2001 | Arch Intern Meal2001，161，20： | 1 |
| 3 | 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 |
| 4 | Homozygosity for a missense mutation in fibulin-5 (FBLNS) 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 |
| 5 | Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa显示文摘 | Hu Q Loeys B L Coucke P J | 2006 | Hum Mol Genet2006，15，23： | 1 |
| 6 | Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome显示文摘 | Loeys B Nuytinck L Delvaux I | 2001 | Arch Intern Med2001，161，20： | 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 | A syndrome of altered cardiovascular,craniofacial,neurocognitve and skeletal development caused by mutatons in TGFBR1 or TGFBR2显示文摘 | CHEN J NEPTUNE E R | 2005 | Nat Genet2005，37，3： | 1 |
| 9 | Purification, characterization, thermal, and high-pressure inactivation of pectin methylesterase from bananas (cv Cavendish)显示文摘 | NGUYEN B L LOEY A V FACHIN D | 2002 | Biotechnology and Bioengineering2002，78，6： | 1 |
| 10 | Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence 显示文摘 | Loeys B Hoebeke P Raes A Messiaen L De Paepe A Vande Walle J | 2002 | BJU2002，90，1： | 1 |
| 11 | Recent progress towards a molecular understanding of Marfan syndrome 显示文摘 | Dietz HC Loeys B Carta L el al | 2005 | Am J Med Genet C Semin Med Genet2005，139，： | 1 |
| 12 | 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 |
| 13 | 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 |
| 14 | Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome显示文摘 | Loeys B Nuytinck L de Paepe A | 2001 | Arch Intern Med2001，161，： | 1 |
| 15 | Recent progress towards a molecular understanding of Marfan syndrome 显示文摘 | Dietz H C Loeys B Carta L | 2005 | Am J Med Genet C Semin Med Genet2005，139，1： | 1 |
| 16 | Recent progress towards a molecular understanding of Marfan syndrome显示文摘 | Dietz H C Loeys B Carta L | 2005 | Am J Med Genet C Semin Med Genet2005，139，1： | 1 |
| 17 | Genetic fibrillinopathies:new insights in molecular diagnosis and clinical management显示文摘 | Loeys B L Matthys D M De Paepe A M | 2003 | Acta Clin Belg2003，58，1： | 1 |
| 18 | Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN 1 mutations: An international study显示文摘 | Faivre L Collod-Beroud G Loeys B L | 2007 | Am J Hum Genet2007，81，9： | 1 |
| 19 | Strawberry Pectin Methylesterase,(PME):Purification,Characterization,Thermal and High-Pressure Inactivation显示文摘 | Nguyen B L Loey A M V Fachin D | | 0，，18： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员