Resultados da busca - Antonarakis, S E

Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis. por Antonarakis, S. E.

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Etiology and Pathogenesis of Down Syndrome por Antonarakis, Stylianos E

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William Allan Award Introduction: Haig H. Kazazian, Jr. por Antonarakis, Stylianos E.

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The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes por Antonarakis, Stylianos E.

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Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy por Antonarakis, Stylianos E.

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History of the methodology of disease gene identification por Antonarakis, Stylianos E.

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Short arms of human acrocentric chromosomes and the completion of the human genome sequence por Antonarakis, Stylianos E.

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From sequence to functional understanding: the difficult road ahead por Makrythanasis, Periklis, Antonarakis, Stylianos E

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High-Throughput Sequencing and Rare Genetic Diseases por Makrythanasis, P., Antonarakis, S.E.

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PvuII polymorphic site upstream to the human ApoCIII gene. por Oettgen, P, Antonarakis, S E, Karathanasis, S K

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BglII polymorphic site downstream to the human apolipoprotein AIV (apoAIV) gene. por Oettgen, P, Antonarakis, S E, Karathanasis, S K

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Haig H. Kazazian, Jr. (1937–2022) por Antonarakis, Stylianos E., Orkin, Stuart H.

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A DNA polymorphism with KpnI of the human liver-type phosphofructokinase (PFKL) gene. por Warren, A C, Groner, Y, Antonarakis, S E

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An Xba I polymorphism 3' to the human erythropoietin (EPO) gene. por Semenza, G L, Ladias, J A, Antonarakis, S E

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DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. por Cohen, T, Karathanasis, S K, Kazazian, H H, Antonarakis, S E

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CATCHing putative causative variants in consanguineous families por Santoni, Federico Andrea, Makrythanasis, Periklis, Antonarakis, Stylianos E.

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Normal phenotype with paternal uniparental isodisomy for chromosome 21. por Blouin, J L, Avramopoulos, D, Pangalos, C, Antonarakis, S E

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Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels. por Coresh, J, Beaty, T H, Kwiterovich, P O, Antonarakis, S E

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Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). por Karathanasis, S K, Oettgen, P, Haddad, I A, Antonarakis, S E

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Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. por Orkin, S H, Cheng, T C, Antonarakis, S E, Kazazian, H H

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