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D. Tang et al.
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Cong Hu et al.
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X. -Y. Liu et al.
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C. Krausz et al.
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A. Castro et al.
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J. U. Schwarzer et al.
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Ingrid Plotton et al.
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Features of constitutive gr/gr deletion in a Japanese population
Ho-Su Sin et al.
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Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man
Guy Longepied et al.
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Paulo Navarro-Costa et al.
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Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population
Y. Yang et al.
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Paulo Navarro-Costa et al.
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Chuncheng Lu et al.
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L. Visser et al.
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Brief Report: Spermatogenesis in a Man with Complete Deletion of USP9Y.
Alice Luddi et al.
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The Will-o'-the-Wisp of Genetics -- Hunting for the Azoospermia Factor Gene.
Chris Tyler-Smith et al.
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C. Krausz et al.
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MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome
Julian Lange et al.
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Microarray detection of Y chromosome deletions associated with male infertility
E. C. Osborne et al.
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Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome
Jin Ho Choe et al.
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Agata Minor et al.
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Csilla Krausz et al.
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KL Nathanson et al.
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S Rozen et al.
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H Skaletsky et al.
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S Repping et al.
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S Repping et al.
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YM Lin et al.
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B Peterlin et al.
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J Jaruzelska et al.
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P Blanco et al.
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C Sun et al.
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R Saxena et al.
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C Foresta et al.
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