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Academic Journal

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Subjects: Genetics; Imaging; Copy number variant

  • Source: ISSN: 0006-3223 ; Biological Psychiatry ; https://hal.umontpellier.fr/hal-01870357 ; Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩.

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Academic Journal

Novel dominant distal titinopathy phenotype associated with copy number variation

Subjects: [SDV]Life Sciences [q-bio]; [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

  • Source: EISSN: 2328-9503 ; Annals of Clinical and Translational Neurology ; https://hal.science/hal-03304664 ; Annals of Clinical and Translational Neurology, In press, 8 (9), pp.1906-1912.

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Academic Journal

Novel dominant distal titinopathy phenotype associated with copy number variation

Subjects: [SDV]Life Sciences [q-bio]

  • Source: EISSN: 2328-9503 ; Annals of Clinical and Translational Neurology ; https://hal.science/hal-04008067 ; Annals of Clinical and Translational Neurology, 2021, 8 (9), pp.1906-1912.

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Academic Journal

Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors.

Subjects: cnLOH; WT KIT allele loss; GIST

  • Source: ISSN: 1476-4598 ; Molecular Cancer ; https://inserm.hal.science/inserm-01188061 ; Molecular Cancer, 2014, 13 (1), pp.246. ⟨10.1111/j.1365-2141.2009.07791.x⟩.

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