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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsBrain - A Journal of Neurology , 2018, 141 (8), pp.2299-2311. ⟨10.1093/brain/awy173⟩
Article dans une revue
hal-03600553v1
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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
Article dans une revue
hal-04032330v1
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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.European Journal of Medical Genetics, 2009, 52 (5), pp.291-6. ⟨10.1016/j.ejmg.2009.05.011⟩
Article dans une revue
inserm-00405484v1
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