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17篇 您的检索式:作者名="KAITILA I"
    题名 作者 年代 出处 被引量
1Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets显示文摘Tyynismaa H Kaitila I Nanto-Salonen K 2000Hum Mutat2000,15,4:1
2Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets显示文摘Tyynismaa H Kaitila I Nanto-Salonen K Ala-Houhala M Alitalo T 2000Hum Mutat2000,15,4:1
3Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets 显示文摘Tyynismaa H Kaitila I Nanto-Salonen K 2000Hum Mutat2000,15,4:1
4Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions显示文摘 Kaitila I Lonnqvist L 2002J Med Genet2002,39,:1
5Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland 显示文摘Haestbacka J Chapelle A Kaitila I 1992Nature Genet1992,2,:1
6Linkage disequilibrium mapping in isolated founder populations:diastrophic dysplasia in Finland显示文摘Hastback J De la Chapelle A Kaitila I 1992Nature Genetics1992,2,:1
7Proteoglycan sulfationin cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to the severity and indications on the role of intracelular sulfate production显示文摘 Kaitila I Wilcox W R 1998Matrix Biol1998,17,:1
8Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions显示文摘Korkko J Kaitila I Lonnqvist L 2002J Med Genet2002,39,1:1
9Linkage disequilibrium mapping in isolated founder populations: Distrophic dysplasia in Finland显示文摘 DE L A CHAPELLE A KAITILA I 1992Nat Genet1992,2,:1
10Sensitivity of conformation sensitive gelelectrophoresis in detecting mutations in Marfan syndrome and related conditions显示文摘Korkko J Kaitila I Lonnqvist L 2002J Med Genet2002,39,1:1
11Hirschsprung disease associated with severe cartilage-hair hypoplasia显示文摘Makitie O Kaitila I Rintala R 2005J Pediatr2005,138,6:1
12Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey显示文摘Kuurila K Kaitila I Johansson R 2002Ann O- tolRhinalLaryngol2002,111,10:1
13Familial asphyxiating thoracic dysplasia:clinical variability and impact of improved neonatal intensive care显示文摘Kajantie E Andersson S Kaitila I 0,,1:1
14Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions 显示文摘Korkko J Kaitila I Alakokko L 2002J Med Genet2002,39,:1
15Linkage disequilibrium mapping in isolated founder populations:diastrophic dysplasia in Finland显示文摘Hastbacka J de la Chapelle A Kaitila I 1992Nat Genet1992,2,3:1
16Cartilage-hair hypoplasia-clinical manifes- tations in 108 Finnish patients 显示文摘Makitie O Kaitila I 1993Eur J Pediatr1993,152,3:1
17Sensitivity of con- formation sensitive gel eleetrophoresis in detecting muta- tions in Marfan syndrome and related conditions显示文摘Korkko J Kaitila I L6nnqvist L 2002J Med Genet2002,39,1:1
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