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17篇 您的检索式:作者名="Alanay Y"
    题名 作者 年代 出处 被引量
1Is Dandy-Walker mal formation associated with 'distal 13q deletion syn drome'? Findings in a fetus supporting previous observation显示文摘Alanay Y Aktas D Utine E 2005Am J Med Genet A2005,136,3:1
2Mutations in the gene encoding the RER protein FKBP65 cause autosomalrecessive osteogenesis imperfecta显示文摘Alanay Y Avaygan H Camacho N 0,,4:1
3Cavernous malformation with Poland-M(o)bius syndrome:case illustration显示文摘MUT M PALAOGLU S ALANAY Y 2007J Neurosurg(1 Suppl Pediatrics)2007,107,1:1
4Congenital contrac- tural arachnodactyly(Beals syndrome)显示文摘E Tuncbilek Y Alanay 2006Orphanet J Rare Dis2006,1,:1
5Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women显示文摘Boduroglu K Alanay Y Koldan B 2004Am J Med Genet A2004,127,1:1
6Mutations in the gene encoding the RER Protein FKBP65 cause autosomal-recessive osteogenesis imperfecta显示文摘Alanay Y Avaygan H Camacho N 0,,04:1
7Terminal phalan-geal accessory ossification center of the thumb:an additional radiographic finding in Larsen syndrome显示文摘Alanay Y Utine GE Lachman RS 0,,:1
8Localized acquired hypertrichosis following cast application显示文摘Kara A Kanra G Alanay Y 2001Pediatr Dennatol2001,18,1:1
9A mutation screen in pa- tients with Kabuki syndrome显示文摘ILl Y B?gershausen N Alanay Y 2011Hum Genet2011,23,:1
10Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia显示文摘Uz E Alanay Y Aktas D 2010Am J Hum Genet2010,86,5:1
11Reliability and concurrent validity of the adapted Chinese version of Scoliosis Research Society-22(SRS-22) questionnaire 显示文摘Cheung K M Senkoylu A Alanay A Genc Y Lau S Luk K D 2007Spine2007,32,:1
12Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis显示文摘Krakow D Alanay Y Rimoin LP 2008Am J Meal Genet A2008,146,15:1
13Clinical and mutation data in12 patients with the clinical diagnosis of Nager syndrome显示文摘Czeschik JC Voigt C Alanay Y 2013Hum Genet2013,132,8:1
14Analysis of MTHFR 1298A > C in addition to MTHFR 677C > T polymorphism as a risk factor for neural tube defects in the Turkish population 显示文摘BODUROGLU K ALANAY Y ALIKAsFOGLU M 2005Turkish J Pediatr2005,47,4:1
15Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta 显示文摘Alanay Y Avaygan H Camaeho N et ol 2010Am J Hum Genet2010,86,4:1
16Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis显示文摘Krakow D Alanay Y Rimoin LP 2008Am J Med Genet A2008,146,15:1
17Mutations in the gene encoding the RER protein FKBP65 cause autosomal-reeessive osteogenesis imperfecta 显示文摘Alanay Y Avaygan H Camacho N 2010Am J Hum Genet2010,86,4:1
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