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25篇 您的检索式:作者名="Temtamy"
    题名 作者 年代 出处 被引量
1The genetics of hand malformations显示文摘Temtamy SA Mc Kusick VA 1978Birth Defects Orig Artic Ser1978,14,3:1
2Identification of a frameshift mutation in Osterix in a patient with recessive ost eogenesis imperfecta显示文摘Lapunzina P Aglan M Temtamy S 0,,1:1
3The genetics of hand malformations显示文摘Temtamy SA McKusiek VA 1978Birth Defects Orig Artic Ser1978,14,3:1
4Phenotypic and cytogenetic spectrum of9p trisomy 显示文摘Temtamy SA Kamel AK Ismail S 2007Genet Couns2007,18,1:1
5Identification of a frameshift mutation in Ostefix in a patient with recessive osteogene- sis imperfecta显示文摘Lapunzina P Aglan M Temtamy S 2010Am J Hum Genet2010,87,1:1
6Mutations in WNT1 cause different forms of bone fragility显示文摘Keupp K Beleggia F Kayserili H Barnes AM Steiner M Semler O Fischer B Yigit G Janda CY Becker J Breer S Altunoglu U Grünhagen J Krawitz P Hecht J Schinke T Makareeva E Lausch E Cankaya T Caparrós-Martín JA Lapunzina P Temtamy S Aglan M Zabel B Eysel P Koe 0,,:1
7Roberts syndrome : study of 4 new Rgyptiancases with comparison of clinical and cytogeneticfind- ings显示文摘Temtamy SA Ismail S Helmy NA 2006Genet Couns2006,17,1:1
8Brachydactyly显示文摘Temtamy S Aglan MS 2008Orphanet J Rare Dis2008,3,:1
9The genetics of hand malformations显示文摘Temtamy S Mckusick VA 1978Birth Defects Orig Artic Ser1978,14,3:1
10Brachydactyly 显示文摘Temtamy SA Aglan MS 2008Orphanet J Rare Dis2008,3,:1
11Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta显示文摘Lapunzina P Aglan M Temtamy S 0,,01:1
12Brachydactyly显示文摘Temtamy SA & Aglan MS 2008Or- phanet Journal of Rare Diseases2008,3,:1
13Extending the scope of the VATER association: definition of the VATER syndrome 显示文摘Temtamy SA Miller JD 1974J Pediatr1974,85,3:1
14Roberts syndrome:study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings显示文摘Temtamy SA Ismail S Helmy NA 0,,01:1
15Molecular characte- rization of beta - thalassemia in Egyptians 显示文摘Hussein IR Temtamy SA el- Beshlawy A 1993Hum Murat1993,2,1:1
16Roberts syndrome:study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings显示文摘Temtamy SA Ismail S Helmy NA 0,,01:1
17Brachydactyly显示文摘Temtamy SA Aglan MS 2008Orphanat J Rare Dis2008,3,:1
18Extending the scope of the VATER association: definition of the VATER syndrome显示文摘Temtamy SA Miller JD 1974J Pediatr1974,85,3:1
19Phenotypic and cytogenetic spectrum of 9p trisomy显示文摘Temtamy SA Kamel AK Ismail S 2007Genet Couns2007,18,1:1
20Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in Chondroitin Synthase I,a potential target of BMP signaling显示文摘Li Y Laue K Temtamy S 2010Am J Hum Genet2010,,87:1
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