Kolexia
Perrin-Sabourin Laurence Pédiatrie
Perrin-Sabourin Laurence
Pédiatrie
Hôpital Robert-Debré
Paris, France
80 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Microcéphalie Épilepsie Encéphalopathies Délétion de segment de chromosome Faciès Retard mental lié à l'X

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Verloes Alain
Verloes Alain
Hôpital Robert-Debré, Paris, France
Capri Yline
Capri Yline
Hôpital Robert-Debré, Paris, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

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Dernières activités

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Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers.
Bulletin du cancer   23 janvier 2024
DNA episignature for White Sutton syndrome due to POGZ episignature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Genetics in medicine : official journal of the American College of Medical Genetics   17 octobre 2023
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain : a journal of neurology   07 octobre 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
American journal of human genetics   18 mai 2023
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Frontiers in genetics   20 avril 2023
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurology   04 mai 2022