PUBLICATIONS of MMG

Veuillez utiliser l'outil ci-dessous pour consulter nos publications par mots clés et/ou par équipe et/ou par année.

Suivez les liens pour consulter les publications sur le site de PubMed.



Rechercher une publication





Résultats : 4167  publications trouvées.

Whalen S, .  et al. 0

Fredriksen T

Dubourg C
- issue: Villard L - volume: Goossens M - pages: Philip N.

Dominique P., .  et al. 0

Gwenaël; Puechberty

Jean-Marc; Tevissen
- issue: obesity - volume: normal motor - pages: Chantal";The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability;European journal of human genetics: EJHG;;1476-5438;10.1038/s41431-017-0018-x;;INTRODUCTION: A large number of gene.

the sequential appearance of the in vivo deficits in this mouse line. The observed deficits initially concern major parameters (such as body weight), .  et al. 0

and are followed by involuntary and sensitive defects (reflexes). Subsequently

- issue: - volume: - pages: .

and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, .  et al. 0

19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients

- issue: - volume: - pages: .

Myers SJ, .  et al. 0

Hongjie Y

Allen J
Hehr U - issue: de Wit MCY - volume: Wilke M - pages: Villard L.

the phenotype was clinically relevant with regard to the literature, .  et al. 0

which prompted to sequence the second allele

- issue: - volume: - pages: .

Angus, .  et al. 0

Bruria; Pineda

Ana; Mari
Francesca; Ravn - issue: Anne-Marie; Mejaški Bošnjak - volume: Vlatka; Polgár - pages: Giorgio; Djuric.

Inc., .  et al. 0

- issue: - volume: - pages: .

Huh L, .  et al. 0

Lesca G

Haginoya K
Pietrafusa N - issue: Mathieu ML - volume: Minassian BA - pages: Lagae L.

, .  et al. 0

- issue: - volume: - pages: .

, .  et al. 0

- issue: - volume: - pages: .

Li, .  et al. 0

Gunnar";Reduced physical exercise and health-related quality of life after Fontan palliation.;Acta paediatrica (Oslo

t
- issue: - volume: - pages: .

Dauba A, .  et al. 0

Larrat B

Roux JC.;"Pharmaceutics. 2021 Aug 12;13(8):1245. doi: 10.3390/pharmaceutics13081245.";Felix MS;Pharmaceutics;2021;28/08/2021;PMC8399273;;10.3390/pharmaceutics13081245
- issue: - volume: - pages: .

Nathalie, .  et al. 0

Louis; Ville

Marie-Christine; Keren
Gaëtan; Doummar - issue: Clotilde; Whalen - volume: Sandra; Heron - pages: Laurent; Richelme.

, .  et al. 0

- issue: - volume: - pages: .

, .  et al. 0

- issue: - volume: - pages: .

Broussin B, .  et al. 0

Carles D

Pelluard F
- issue: - volume: - pages: .

our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, .  et al. 0

epilepsy and dystonic fits

- issue: - volume: - pages: .

Pierre, .  et al. 0

Sandra; Fredriksen

Dominique; Dubourg
Anne";TCF4 deletions in Pitt-Hopkins Syndrome.;Human mutation;;1098-1004 1059-7794;10.1002/humu.20859;;Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed - issue: Pierre; Villard - volume: Laurent; Goossens - pages: Jean; Philip.

, .  et al. 0

- issue: - volume: - pages: .