Torthaí cuardaigh - Marie‐José Gregoire
- 1 - 2 toradh as 2 á dtaispeáint
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1
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions de réir Mylène Béri‐Dexheimer, Véronique Latger‐Cannard, Christophe Philippe, Céline Bonnet, Pascal Chambon, Virginie Roth, Marie‐José Gregoire, Pierre Bordigoni, Thomas Lecompte, Bruno Leheup, Philippe Jonveaux
Foilsithe / Cruthaithe 2008Artigo -
2
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients de réir Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie‐José Gregoire, Bruno Leheup, Laurence Taine, Didier Lacombe, Marie‐Ange Delrue, Annick Toutain, Agathe Paubel, Francine Mugneret, Christel Thauvin‐Robinet, Stéphanie Arpin, Cédric Le Caignec, Philippe Jonveaux, Mylène Béri, Nathalie Leporrier, Jacques Motté, Caroline Fiquet, Olivier Brichet, Monique Mozelle-Nivoix, Pascal Sabouraud, Nathalie Golovkine, Nathalie Bednarek, Dominique Gaillard, Martine Doco‐Fenzy
Foilsithe / Cruthaithe 2012Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Genetics
Bioinformatics
Brachydactyly
Cancer research
Computational biology
Gene
Genetic testing
Germline
Germline mutation
Haploinsufficiency
Immunology
Internal medicine
Medicine
Mutation
Obesity
Overweight
Pediatrics
Phenotype
Platelet
Platelet disorder
Point mutation
RUNX1
Short stature
Transcription factor