Sotos syndrome : deep neuroimaging phenotyping reveals a high prevalence of malformations of cortical development
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American journal of neuroradiology - ISSN 0195-6108-45:10 (2024) p. 1570-1577
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
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Brain - ISSN 0006-8950-147:8 (2024) p. 2775-2790
The impact of confined placental mosaicism on prenatal cell-free DNA screening : insights from a monocentric study of 99 cases
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Placenta - ISSN 0143-4004-152 (2024) p. 17-22
Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
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European journal of medical genetics - ISSN 1769-7212-66:11 (2023) p. 1-4
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Biological psychiatry - ISSN 0006-3223-85:4 (2019) p. 287-297