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Edwina Sutton et al.
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Emerging Themes and New Challenges in Defining the Role of Structural Variation in Human Disease
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Estimation and assessment of raw copy numbers at the single locus level
H. Bengtsson et al.
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Yoko Miyamoto et al.
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Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis
M. Barbaro et al.
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Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome
Valerie Schumacher et al.
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Jun-ichi Kyuno et al.
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Dynamic regulation of mitotic arrest in fetal male germ cells
Patrick S. Western et al.
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Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice
Gerrit J. Bouma et al.
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Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
Michela Barbaro et al.
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M. Smyk et al.
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Dagmar Wilhelm et al.
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Saskia A. J. Lesnik Oberstein et al.
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Dagmar Wilhelm et al.
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Consensus statement on management of intersex disorders
Peter A. Lee et al.
PEDIATRICS (2006)
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S Bagheri-Fam et al.
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A Beverdam et al.
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Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)
GE Crawford et al.
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S Nef et al.
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GJ Bouma et al.
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Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
GVN Velagaleti et al.
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Fine mapping of chromosome 17 translocation breakpoints ≥900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia
KL Hill-Harfe et al.
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Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal -: art. no. e47
R Pop et al.
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Sex determination: a 'window' of DAX1 activity
LM Ludbrook et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2004)
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LELM Vissers et al.
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AJ Iafrate et al.
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P Canto et al.
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SJ White et al.
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JJ Meeks et al.
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JP Schouten et al.
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S Bagheri-Fam et al.
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VPI Vidal et al.
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BK Jordan et al.
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CE Bishop et al.
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