Kolexia
Ziegler Alban Génétique médicale
Ziegler Alban
Génétique médicale
American Memorial Hospital Chu Reims
Reims, France
102 Activités
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Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Perte d'audition Microcéphalie Malformations multiples Hypotonie musculaire Prédisposition génétique à une maladie Cardiopathies congénitales Faciès Mégalencéphalie

Collaborateurs

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Bonneau Dominique
Bonneau Dominique
Hôpital Larrey Angers, Angers, France
Colin Estelle
Colin Estelle
Université d'Angers, Angers, France
Barth Magalie
Barth Magalie
Hôpital Larrey Angers, Angers, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Merck-Serono
1 collaboration(s)
Dernière en 2020
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Dernières activités

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences   26 janvier 2024
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.
Frontiers in neurology   09 novembre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square   29 septembre 2023
Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders.
International journal of paediatric dentistry   01 septembre 2023
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
The Journal of clinical endocrinology and metabolism   21 août 2023
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
American journal of medical genetics. Part A   18 juillet 2023
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
The British journal of dermatology   12 juillet 2023