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期刊名：Advances in human genetics

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ISSN：0065-275X

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Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome [0.03%] 类固醇硫酸酯酶缺乏症和人类X染色体短臂的遗传学研究

L J Shapiro L J Shapiro

Review Advances in human genetics. 1985:14:331-81, 388-9. DOI:10.1007/978-1-4615-9400-0_5 1985

Chromosome instability syndromes [0.03%] 染色体不稳定性综合征

M M Cohen,H P Levy M M Cohen

Review Advances in human genetics. 1989:18:43-149, 365-71. DOI:10.1007/978-1-4613-0785-3_2 1989

A comprehensive and critical assessment of overgrowth and overgrowth syndromes [0.03%] 全面而批判性地评估过度生长和过度生长综合征

M M Cohen Jr M M Cohen Jr

Review Advances in human genetics. 1989:18:181-303, 373-6. DOI:10.1007/978-1-4613-0785-3_4 1989

Lacticacidemia. Biochemical, clinical, and genetic considerations [0.03%] 乳酸性酸中毒：生化、临床和基因型的考虑因素

B H Robinson B H Robinson

Review Advances in human genetics. 1989:18:151-79, 371-2. DOI: 1989

Genetics of growth hormone and its disorders [0.03%] 生长激素及其紊乱的遗传学

J A Phillips rd,C L Vnencak-Jones J A Phillips rd

Review Advances in human genetics. 1989:18:305-63. DOI:10.1007/978-1-4613-0785-3_5 1989

The molecular basis of HLA-disease association [0.03%] 人类白细胞抗原疾病的分子基础

J I Bell,J A Todd,H O McDevitt J I Bell

Review Advances in human genetics. 1989:18:1-41. DOI: 1989

Oxidative phosphorylation diseases. Disorders of two genomes [0.03%] 氧化磷酸化障碍。两种基因组的疾病

J M Shoffner th,D C Wallace J M Shoffner th

Review Advances in human genetics. 1990:19:267-330. DOI: 1990

Genetic aspects of immunoglobulin A deficiency [0.03%] 免疫球蛋白A缺乏的遗传学方面

C Cunningham-Rundles C Cunningham-Rundles

IgA deficiency is one of the most common of all immune defects. While it is often not associated with clinical illness, presumably due to compensation from other sectors of the immune system, IgA-deficient individuals are distinctly more li...

Review Advances in human genetics. 1990:19:235-66. DOI:10.1007/978-1-4757-9065-8_4 1990

Structural defects in inherited and giant platelet disorders [0.03%] 遗传性和巨大血小板障碍的结构缺陷

J G White J G White

As diverse as the group of inherited structural defects and giant platelet disorders presented in this chapter may seem, there is a common thread that ties them together. All appear to represent some form of membrane aberration. Sometimes o...

Review Advances in human genetics. 1990:19:133-234. DOI:10.1007/978-1-4757-9065-8_3 1990

Mutations in type I procollagen genes that cause osteogenesis imperfecta [0.03%] 第一类前胶原基因的突变导致成骨不全症

D J Prockop,C T Baldwin,C D Constantinou D J Prockop

Review Advances in human genetics. 1990:19:105-32. DOI:10.1007/978-1-4757-9065-8_2 1990