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A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeAmerican Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103 - 2110. ⟨10.1002/ajmg.a.37765⟩
Article dans une revue
istex
hal-01680171v1
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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesEuropean Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue
hal-01626052v1
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