Kolexia
Van Maldergem Lionel Génétique médicale
Van Maldergem Lionel
Génétique médicale
Hôpital Jean-Minjoz
Besançon, France
141 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Faciès Malformations crâniofaciales Encéphalopathies Ataxie Cutis laxa Ataxie cérébelleuse Épilepsie

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Piard Juliette
Piard Juliette
Hôpital Jean-Minjoz, Besançon, France
Boucher Elise
Boucher Elise
Hôpital Saint-Jacques de Besançon, Besançon, France
Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France

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Dernières activités

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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Molecular psychiatry   29 novembre 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Journal of medical genetics   16 août 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European journal of human genetics : EJHG   21 juin 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
American journal of human genetics   31 janvier 2023
Gain-of-function variants in the ion channel gene underlie a spectrum of neurodevelopmental disorders.
eLife   17 janvier 2023
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
American journal of human genetics   20 septembre 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genetics in medicine : official journal of the American College of Medical Genetics   07 juin 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
American journal of medical genetics. Part A   21 avril 2022
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
Human molecular genetics   08 avril 2022
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.
Haematologica   01 avril 2022