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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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Description clinique et analyse de corrélation phénotype/génotype dans une cohorte de patients atteints d’une déficience intellectuelle liée à des mutations du gène PAK3
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In: 10èmes Assises de Génétique Humaine et Médicale ; https://hal.archives-ouvertes.fr/hal-02436525 ; 10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France (2020)
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| 4 |
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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In: ISSN: 1098-3600 ; Genetics in Medicine ; https://hal-amu.archives-ouvertes.fr/hal-01932796 ; Genetics in Medicine, Nature Publishing Group, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩ ; https://www.nature.com/articles/s41436-018-0339-3 (2019)
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| 5 |
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 |
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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| 7 |
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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| 8 |
Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy
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| 9 |
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
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In: ISSN: 1553-7390 ; EISSN: 1553-7404 ; PLoS Genetics ; https://www.hal.inserm.fr/inserm-01061498 ; PLoS Genetics, Public Library of Science, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩ (2014)
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| 10 |
Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome
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In: ISSN: 0031-4005 ; EISSN: 1098-4275 ; Pediatrics ; https://halshs.archives-ouvertes.fr/halshs-00641289 ; Pediatrics, American Academy of Pediatrics, 2009, pp.376-382 (2009)
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| 11 |
Autism, language delay and mental retardation in a patient with 7q11 duplication. ; : Autism and 7q11 duplication
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://www.hal.inserm.fr/inserm-00166907 ; Journal of Medical Genetics, BMJ Publishing Group, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩ (2007)
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