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 : 4196  publications trouvées.

D., .  et al. 0

J.; Gedeon

L.";"Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.";Journal of medical...
- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


Am J Med Genet. 1996 Jul 12, .  et al. 0

Raynaud M

10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N
- issue: - volume: - pages: .


Borges-Correia A, .  et al. 0

Barkats M

- issue: - volume: - pages: .


Philippe, .  et al. 0

David; Lossi

we have cloned its murine ortholog
- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


Giulia, .  et al. 0

Julitta; Chatron

Caroline; Lèbre
Amélie; Schaefer - issue: Rima; Nava - volume: Caroline; Panagiotakaki - pages: Cyril; Milh.


, .  et al. 0

- issue: - volume: - pages: .


Nat Genet. 1996 Apr, .  et al. 0

Villard L

10.1038/ng0496-359
- issue: - volume: - pages: .


Philip N, .  et al. 0

Menten B

Grange DK
Bottani A - issue: Mortier G - volume: Friedman JM - pages: Gimelli S.


maturing neurons., .  et al. 0

- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


since 2018, .  et al. 0

with the French reference center for rare epilepsies (CRéER). RESULTS: Since 2014

SCN2A
- issue: account for one-sixth of patients and half of the diagnoses provided by the PAGEM. CONCLUSION: These results suggest that a gene-panel approach is an efficient first-tier test for the genetic diagnosis of Mendelian epileptic disorders. In a near futu - volume: French patients with ""drug-resistant epilepsies with seizure-onset in the first two-years of life"" can be - pages: SYNGAP1.


respectively. We postulate that a gene might be disrupted by one of the breakpoints., .  et al. 0

Inc.;;;;;;Place: United States PMID: 11078572

- issue: - volume: - pages: .


Am J Hum Genet. 1996 Mar, .  et al. 0

Villard L

- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


F., .  et al. 0

A.; Labelle

J.; Anvret
- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .