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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityAmerican Journal of Human Genetics, 2018, 102 (3), pp.364 - 374. ⟨10.1016/j.ajhg.2018.01.009⟩
Article dans une revue
hal-01721495v1
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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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