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Maladies Rares: Génétique et Métabolisme | Researchclopedia

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Maladies Rares: Génétique et Métabolisme

Bordeaux, Nouvelle-Aquitainefacility

475

Works

42,220

Citations

97

h-index

Top Research Topics

Mitochondrial Function and Pathology Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Top Researchers

Antonio Gasbarrini Università Cattolica del Sacro Cuore

3,769 works111,158 citationsh-index: 145

Recent Research

La quantification de la susceptibilité magnétique à visée de quantification du fer intracérébral : vers un biomarqueur d’évolution de l’accumulation intracérébrale de fer dans les NBIA ?

Chloé Angelini,C. Goizet,et al.

20260 citations

melanin and skin pigmentation

Genomic variations and chromosomal abnormalities

Genetic Neurodegenerative Diseases

RNA regulation and disease

Neurological diseases and metabolism

Cancer, Hypoxia, and Metabolism

Hereditary Neurological Disorders

Lysosomal Storage Disorders Research

RNA modifications and cancer

1,683 works38,384 citationsh-index: 75

Frédéric Sacher Université de Bordeaux

768 works36,786 citationsh-index: 96

Alain Taı̈eb Tunis University

861 works34,988 citationsh-index: 90

Elisabeth Tournier‐Lasserve Inserm

356 works25,953 citationsh-index: 84

Didier Lacombe Centre Hospitalier Universitaire de Bordeaux

643 works25,468 citationsh-index: 84

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric N. Anderson,Stephan Drukewitz,et al.

20250 citations

Expansion des cellules CD34 circulantes pour la greffe hématopoïétique

Mathilde Huart,Christelle Debeissat,et al.

20250 citations

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation

Elina Mercier,David‐Alexandre Trégouët,et al.

20251 citations

The tryptophan–serotonin axis in albinism: an interesting lead?

Benoît Gendrot,Marion Falabrègue,et al.

20250 citations

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8

Daria Mamaeva,Nejla Erkilic,et al.

20250 citations