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23篇 您的检索式:作者名="Kotzot"
    题名 作者 年代 出处 被引量
1Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated 显示文摘Kotzot D and Utermann G 2005Am J Med Genet A2005,136,:1
2Etiology of chest wall deformities--a ge-netic review for the treating physician显示文摘Kotzot D Schwabegger A H 2009J Pediatr Surg2009,44,10:1
3Etiology of chest wall deformities a genetic review for the treating physician显示文摘Kotzot D Schwabegger AH 2009J Pediatr Surg2009,44,10:1
4Uniparental disomy(UPD)other than15:phenotypes and bibliography updated显示文摘Kotzot D Utermann G 2005Am J Med Genet A2005,136,:1
5Prenatal testing for uniparental disomy:indications and clinical relevance显示文摘Kotzot D 2008Ultrasound Obstet Gynecol2008,31,:1
6Prenatal testing for uniparental disomy:indications and clinical relevance显示文摘Kotzot D 2008Ultrasound Obstet Gynecol2008,31,1:1
7SALL4 mutations in Okihiro syndrome( Duane-radial ray syndrome), aero-renal-oeular syndrome,and related disorders显示文摘Kohlhase J Chitayat D Kotzot D 2005Hum Murat2005,26,3:1
8Uniparental disomy (UPD) other than 15:phenotypes and bibliography updated显示文摘Kotzot D Utermann G 2005Am J Med Genet A2005,136,3:1
9Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation显示文摘Kotzot D Schmitt S Bernasconi F 0,,:1
10Etiology of chest wall deformities: a genetic review for the treating physicians显示文摘Kotzot D Sehwabcgger A H 2009J Pediatr Surg2009,44,10:1
11A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome显示文摘Wohrle D Kotzot D Hirst MC 1992Am J Hum Genet1992,51,2:1
12Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaieism, and genomic imprinting显示文摘Kotzot D 2004Ann Genet2004,47,:1
13Maternal uniparental disomy 7 and Silver-Russell syndrome clinical update and comparison with other subgroups显示文摘Kotzot D 2008Eur J Med Genet2008,51,:1
14Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome 显示文摘FOKSTUEN S KOTZOT D 2014Am J Med Genet A2014,164,6:1
15Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation显示文摘Kotzot D Schmitt S Bemasconi F 1995Hum Mol Genet1995,4,:1
16Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosoraal recessively inherited traits, trisomy mosaicism, and genomic imprinting显示文摘Kotzot D 2004Ann Genet2004,47,3:1
17Prenatal testing for uniparental disomy: indications and clinical relevance 显示文摘Kotzot D 2008Ultrasound Obstet Gynecol2008,31,1:1
18SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome),acro-renal-ocular syndrome,and related disorders显示文摘Kohlhase J Chitayat D Kotzot D 0,,03:1
19Maternal uniparental disomy 14dissectionof the phenotype with respect to rare autosomal re-cessively inherited traits,trisomy mosaicism,andgenomic imprinting显示文摘Kotzot D 2004Ann Genet2004,47,25:1
20Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated显示文摘Kotzot D Utermann G 2005Am J Med Genet A2005,136,3:1
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