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1
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
In: ISSN: 2041-1723 ; EISSN: 2041-1723 ; Nature Communications ; https://hal.sorbonne-universite.fr/hal-01922858 ; Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩ (2018)
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2
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova, Eva; Varon, Raymonda; Vejvalka, Jan. - : PUBLIC LIBRARY SCIENCE, 2016
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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova, Eva; Varon, Raymonda; Vejvalka, Jan. - : Public Library of Science, 2016
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