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ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.肾母细胞瘤与无虹膜、半侧肥大及其他先天性畸形的关联
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CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.视网膜母细胞瘤病例中的染色体缺失
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Isolation of the human Xp21 glycerol kinase gene by positional cloning.通过定位克隆分离人类Xp21甘油激酶基因。
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Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.门克斯病候选基因的分离及其编码铜转运ATP酶的证据。
Nat Genet. 1993 Jan;3(1):7-13. doi: 10.1038/ng0193-7.
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Isolation of a partial candidate gene for Menkes disease by positional cloning.通过定位克隆分离门克斯病的部分候选基因。
Nat Genet. 1993 Jan;3(1):20-5. doi: 10.1038/ng0193-20.
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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.分离出一种门克斯病的候选基因,该基因编码一种潜在的重金属结合蛋白。
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A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.门克斯病的细胞遗传学研究:对X连锁疾病中染色体重排检测的启示
J Med Genet. 1993 Apr;30(4):314-5. doi: 10.1136/jmg.30.4.314.
8
Physical mapping of the holoprosencephaly critical region on chromosome 7q36.7号染色体q36区域全前脑畸形关键区域的物理图谱构建。
Nat Genet. 1993 Mar;3(3):247-51. doi: 10.1038/ng0393-247.
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Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.
Am J Med Genet. 1993 Mar 1;45(5):577-80. doi: 10.1002/ajmg.1320450511.
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High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome.
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Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

作者信息

Tommerup N

机构信息

Danish Centre for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark.

出版信息

J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713.

DOI:10.1136/jmg.30.9.713
PMID:8411066
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016528/
Abstract
摘要