Kolexia
Mandel Jean-Louis Médecine générale
Mandel Jean-Louis
Médecine générale
Hôpital Civil
Strasbourg, France
144 Activités
0 Followers
Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Maladies rares Myopathies congénitales structurales Syndrome du chromosome X fragile Syndrome de Bardet-Biedl Maladies musculaires Épilepsie Malformations multiples Microcéphalie

Collaborateurs

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Schaefer Élise
Schaefer Élise
Hôpital Hautepierre, Strasbourg, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Muller Jean-Michel
Muller Jean-Michel
Hôpital Hautepierre, Strasbourg, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Fresenius Medical Care
2 collaboration(s)
Dernière en 2018
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Dernières activités

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"Recurrent familial case of early childhood sudden death: complex post mortem genetic investigations"
Forensic science international. Genetics   02 mars 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics   29 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
Ocular manifestations in Koolen-de Vries syndrome: an international study.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie   22 décembre 2023
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Molecular psychiatry   29 novembre 2023
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
American journal of medical genetics. Part A   23 juin 2023
Syndrome de Koolen de Vries
HAS Publications   15 juin 2023
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome
Genetics in medicine open   18 mai 2023