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authFullName_s : Caroline Schluth-Bolard

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel , Christina Gehbauer , Nuria C. Bramswig , Caroline Schluth-Bolard , Sathish Venkataramanappa , et al.
Brain - 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)

Cécile Courdier , John Boudjarane , Valérie Malan , Christine Muti , Brian Sperelakis-Beedham , et al.
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.

Caroline Schluth-Bolard , Bruno Delobel , Damien Sanlaville , Odile Boute , Jean-Marie Cuisset , et al.
European Journal of Medical Genetics, 2009, 52 (5), pp.291-6. ⟨10.1016/j.ejmg.2009.05.011⟩
Article dans une revue inserm-00405484v1