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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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| 2 |
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
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In: ISSN: 1932-6203 ; EISSN: 1932-6203 ; PLoS ONE ; https://hal.archives-ouvertes.fr/hal-01439710 ; PLoS ONE, Public Library of Science, 2012, 7 (3), ⟨10.1371/journal.pone.0030778⟩ (2012)
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