PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

, .  et al. 0

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Eur J Paediatr Neurol. 2020 Sep, .  et al. 0

Cabasson S

10.1016/j.ejpn.2020.06.002
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Borloz E, .  et al. 0

Seve M

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Dicky J. J., .  et al. 0

Tim; Villard

coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of periventricular heterotopia. METHODS:...
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, .  et al. 0

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and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation., .  et al. 0

Inc.;;;;;;Place: United States PMID: 25959266

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Epilepsia. 2020 Jul, .  et al. 0

Trivisano M

10.1111/epi.16582
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Renieri A, .  et al. 0

Villard L

Armstrong J
Vignoli A - issue: Pini G - volume: Bisgaard AM - pages: Craiu D.


recurrent infections and feeding difficulties. Degenerative features included early regression, .  et al. 0

acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia

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Jeroen, .  et al. 0

Nicole; Menten

Jennifer L.; Grange
Laurent; Bottani - issue: Jean-Pierre; Mortier - volume: Geert; Friedman - pages: Michael M.; Gimelli.


10q25.2, .  et al. 0

and 8p23.1) in 3 patients born to consanguineous parents

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Eur J Hum Genet. 2020 Dec, .  et al. 0

El Waly B

10.1038/s41431-020-0659-z
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Borges-Correia A, .  et al. 0

Saudou F

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Elisabeth, .  et al. 0

Jean-Christophe; Franco

Christelle; Cornu
affecting around one in 10 - issue: Laurent; Blin - volume: Olivier; Micallef - pages: Romain; Attolini.


which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, .  et al. 0

the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype

genitalia
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, .  et al. 0

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Epilepsia. 2020 May, .  et al. 0

Milh M

10.1111/epi.16494
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Abi-Warde MT, .  et al. 0

Barcia G

de Saint-Martin A
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, .  et al. 0

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severity of epilepsy, .  et al. 0

and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software

associated with a milder Rett phenotype
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