S
Stylianos E. Antonarakis
Researcher at University of Geneva
Publications - 758
Citations - 99393
Stylianos E. Antonarakis is an academic researcher from University of Geneva. The author has contributed to research in topics: Gene & Chromosome 21. The author has an hindex of 138, co-authored 746 publications receiving 93605 citations. Previous affiliations of Stylianos E. Antonarakis include Northwestern University & Gujarat University.
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Erratum: Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28 (Genomics (1993) 16:1 (20-25))
Barbara R. Migeon,Matthew J. McGinniss,Stylianos E. Antonarakis,Joyce Axelman,B. A. Stasiowski,Hagop Youssoufian,William G. Kearns,A. Chung,Peter L. Pearson,H H Kazazian,Razia S. Muneer +10 more
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Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.
Stefania Gimelli,Maria Teresa Divizia,Margherita Lerone,Lara Bricco,Frédérique Béna,Stylianos E. Antonarakis,Roberto Ravazzolo,Giorgio Gimelli +7 more
TL;DR: Array-CGH Analysis in a Patient With WAGR Syndrome and a Reciprocal Translocation Inherited From the Normal Father With Double Translocation shows clear patterns of inheritance from the normal father with double Translocation.
Journal Article
Erratum: Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition (Nucleic Acids Research (1994) 22 (3511-3533))
Egd Tuddenham,Rainer Schwaab,J. Seehafer,David Stuart Millar,Jane Gitschier,Miyoko Higuchi,Sanjay I. Bidichandani,J. M. Connor,Leon W. Hoyer,Akira Yoshioka,Ian R. Peake,Klaus Olek,H H Kazazian,Jean-Maurice Lavergne,Francesco Giannelli,Stylianos E. Antonarakis,David Neil Cooper +16 more
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Welcome to PathoGenetics.
TL;DR: The current challenge is to understand the molecular and metabolic pathways by which a particular pathogenic variation leads to a specific phenotype.
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Three decades of the Human Genome Organization
TL;DR: The Human Genome Organization (HUGO) as discussed by the authors was initially established to help integrate international scientific genomic activity and to accelerate the diffusion of knowledge from the efforts of the human genome project.