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23篇 您的检索式:作者名="Hamel BC"
    题名 作者 年代 出处 被引量
1The clin- ical spectrum of complete FBNI allele deletions显示文摘Hilhorst-Hofstee Y Hamel BC Verheij JB 2011Eur J Hum Genet2011,19,3:1
2Heterozygous germline mutations in thep53 homologp63 are the cause of EEC syndrome 显示文摘Celli J Duijf P Hamel BC 1999Ce111999,99,:1
3A family with complex bilateral polysyndacty显示文摘Nicolai J-RA Hamel BC 1988J Hand Surg Am1988,13,3:1
4Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome显示文摘Celli J Duijf P Hamel BC 1999Cell1999,99,2:1
5Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency 显示文摘Laumonnier F Ronce N Hamel BC 2002Am J Hum Genet2002,71,6:1
6X-linked mental retardation 显示文摘Ropers HH Hamel BC 2005Nat Rev Genet2005,6,1:1
7The clinical spectrum of complete FBN1allele deletions显示文摘Hilhorst-Hofstee Y Hamel BC Verheij JB Rijlaarsdam ME Man-cini GM Cobben JM 2011Eur J Hum Genet2011,19,3:1
8X-linked mental retardation 显示文摘Ropers HH Hamel BC 2005Nat Rev Genet2005,134,3:1
9The p63 gene in EEC and other syndromes显示文摘Brunner HG Hamel BC Van Bokhoven H 2002J Med Genet2002,39,6:1
10Autosomal recessive intestinalet lymphangiectasia and lymphedema,with facial anomalies and mental retardation显示文摘Hennekam RC Geerdink RA Hamel BC 1989Am J Med Genet1989,34,4:1
11Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syn- drome显示文摘Celli J Duijf P Hamel BC 1999Cell1999,99,2:1
12Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome显示文摘Celli J Duijf P Hamel BC 1999Cell1999,99,:1
13P63 gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation显示文摘van Bokhoven H Hamel BC Bamshad M 2001Am J Hum Genet2001,69,:1
14Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome显示文摘Celli J Duijf P Hamel BC 1999Cell1999,99,:1
15Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15 显示文摘Smeets DF Hamel BC Nelen MR 1992N Engl J Med1992,326,12:1
16The p63 gene in EEC and other syndromes 显示文摘Brunner HG Hamel BC Van Bokhoven H 2002J Med Genet2002,39,6:1
17Ehlers-Danlos syndrome显示文摘Hamel BC 2004Neth J Med2004,62,5:1
18From forest to fen:microarthropod abundance and litter decomposition in a southern Appalachian floodplain/fen complex显示文摘Reynolds BC Hamel J Isbanioly J Klausman L Moorhead KK 0,,:1
19p63 gene mutations and human developmental syndromes显示文摘 Hamel BC Bokhoven HvH 2002Am J Med Genet2002,112,3:1
20Pfeiffer syndrome type 2: further delineation and review of the literature显示文摘Plomp AS Hamel BC Cobben JM 1998Am J Med Genet1998,75,:1
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