Kolexia
Busa Tiffany Pédiatrie
Busa Tiffany
Pédiatrie
Hôpital La Timone Enfants
Marseille, France
98 Activités
14 Followers
Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Délétion de segment de chromosome Syndrome de DiGeorge Anévrysme disséquant Prédisposition génétique à une maladie Encéphalopathies Syndrome d'Ehlers-Danlos Anévrysme de l'aorte

Collaborateurs

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Sarles-Philip Nicole
Sarles-Philip Nicole
Hôpital La Timone Enfants, Marseille, France
Sigaudy Sabine
Sigaudy Sabine
Hôpital La Timone Enfants, Marseille, France
Missirian Chantal
Missirian Chantal
Hôpital La Timone Enfants, Marseille, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2023
Amicus Therapeutics
1 collaboration(s)
Dernière en 2023
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Dernières activités

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National French retrospective cohort of 22 individuals with kyphoscoliotic Ehlers-Danlos syndrome: emphasis on vascular involvement
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
American journal of obstetrics and gynecology   16 septembre 2023
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
NPJ genomic medicine   18 juillet 2023
IDMet: National Cohort on Imprinting Disorders and Their Metabolic Consequences
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   06 juillet 2023
In Marfan Syndrome and Related Diseases, STABILISE Technique Should Be Used with Care: Results from a Volumetric Comparative Study of Endovascular Treatment for Aortic Dissection.
Journal of clinical medicine   29 juin 2023
Cardiovascular and Connective Tissue Disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genetics in medicine : official journal of the American College of Medical Genetics   28 mars 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical Genetics   05 mars 2023
P-120 | Prenatal and postnatal phenotypes of Coffin-Siris syndrome: Two very different sides of the same coin
Abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, 19–23 June 2022   03 janvier 2023