Kolexia
Spodenkiewicz Marta Génétique médicale
Spodenkiewicz Marta
Génétique médicale
Hôpital Saint Pierre
Saint-Pierre, France
25 Activités
48 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Microcéphalie Encéphalopathies Hyperammoniémie Déficience intellectuelle Monosomie Surdité bilatérale partielle Surdité Mucopolysaccharidose de type IV

Collaborateurs

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Poirsier Celine
Poirsier Celine
Maison Blanche, Reims, France
Doco-Fenzy Martine
Doco-Fenzy Martine
Maison Blanche, Reims, France
Toquet Segolene
Toquet Segolene
Hôpital Robert-Debré Reims, Reims, France
Jacquin Clémence
Jacquin Clémence
Hôpital Robert-Debré Reims, Reims, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2022
Janssen
1 collaboration(s)
Dernière en 2021
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Dernières activités

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3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
American journal of medical genetics. Part A   05 octobre 2022
10q26 deletion syndrome: a French cohort study
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Aarskog-Scott syndrome: case report and updated-review
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Variant in HNRNPR leading to developmental delay with facial dysmorphism and bone abnormalities: a case report
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Orphanet journal of rare diseases   28 février 2022
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Journal of inherited metabolic disease   07 juin 2021
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Endocrine   17 mai 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal of medical genetics   18 mars 2021