Items where Author is "Nambot, Sophie"

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Rosenhahn, Erik and O’Brien, Thomas J. and Zaki, Maha S. and Sorge, Ina and Wieczorek, Dagmar and Rostasy, Kevin and Vitobello, Antonio and Nambot, Sophie and Omrani, Abdolmajid (2022) ARTICLE Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. AJHG, 109 (8). pp. 1421-1435. ISSN 0002-9297

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