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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683 ; American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩ (2021)
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
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In: http://infoscience.epfl.ch/record/222363 (2016)
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-01120401 ; Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩ (2012)
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
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A 600 kb Deletion Syndrome at 16p11.2 Leads to Energy Imbalance and Neuropsychiatric Disorders
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Structured RNAs in the ENCODE selected regions of the human genome
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