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Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Non-amyloid Logopenic Variant
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In: ISSN: 0028-3878 ; EISSN: 1526-632X ; Neurology ; https://hal.archives-ouvertes.fr/hal-03281660 ; Neurology, American Academy of Neurology, 2021, ⟨10.1212/wnl.0000000000012174⟩ (2021)
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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
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In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-03403503 ; European Journal of Medical Genetics, Elsevier, 2021, 64 (10), ⟨10.1016/j.ejmg.2021.104290⟩ (2021)
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
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In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩ (2020)
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| 4 |
How to make a tongue: Cellular and molecular regulation of muscle and connective tissue formation during mammalian tongue development
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In: ISSN: 1084-9521 ; EISSN: 1096-3634 ; Seminars in Cell and Developmental Biology ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01820871 ; Seminars in Cell and Developmental Biology, Elsevier, In press, ⟨10.1016/j.semcdb.2018.04.016⟩ ; https://www.sciencedirect.com/science/article/pii/S1084952117301477?via%3Dihub (2018)
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139 ; Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩ ; https://jmg.bmj.com/content/55/6/359.long (2018)
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| 6 |
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
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In: ISSN: 0022-3476 ; Journal of Pediatrics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560200 ; Journal of Pediatrics, Elsevier, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩ ; http://www.sciencedirect.com/science/article/pii/S0022347617302214 (2017)
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| 7 |
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
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In: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814 ; European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911 - 918. ⟨10.1038/ejhg.2015.221⟩ ; http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015221a.html (2016)
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| 8 |
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
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