Edery, H.
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6

KCNQ2 R144 variants cause neurodevelopmental disability wit..:

Miceli, Francesco ; Millevert, Charissa ; Soldovieri, Maria Virginia...
Miceli , F , Millevert , C , Soldovieri , M V , Mosca , I , Ambrosino , P , Carotenuto , L , Schrader , D , Lee , H K , Riviello , J , Hong , W , Risen , S , Emrick , L , Amin , H , Ville , D , Edery , P , de Bellescize , J , Michaud , V , Van-Gils , J , Goizet , C , Willemsen , M H , Kleefstra , T , Møller , R S , Bayat , A , Devinsky , O , Sands , T , Korenke , G C , Kluger , G , Mefford , H C , Brilstra , E , Lesca , G , Milh , M , Cooper , E C , Taglialatela , M & Weckhuysen , S 2022 , ' KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism ' , EBioMedicine , vol. 81 , 104130 . https://doi.org/10.1016/j.ebiom.2022.104130.  , 2022
 
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8

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, H ; Hammer, TB ; Gardella, E...
https://discovery.ucl.ac.uk/id/eprint/10114570/3/NEXMIF_Figure1.pdf.  , 2021
 
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Effects of eight neuropsychiatric copy number variants on h..:

Modenato C ; Kumar K ; Moreau C...
info:eu-repo/semantics/altIdentifier/pmid/34285187.  , 2021
 
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10

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, H ; Hammer, TB ; Gardella, E...
Stamberger , H , Hammer , TB , Gardella , E , Vlaskamp , DRM , Bertelsen , B , Mandelstam , S , Lange , I , Zhang , J , Myers , CT , Fenger , C , Afawi , Z , Almanza Fuerte , EP , Andrade , DM , Balcik , Y , Ben Zeev , B , Bennett , MF , Berkovic , SF , Isidor , B , Bouman , A , Brilstra , E , Busk , ØL , Cairns , A , Caumes , R , Chatron , N , Dale , RC , de Geus , C , Edery , P , Gill , D , Granild-Jensen , JB , Gunderson , L , Gunning , B , Heimer , G , Helle , JR , Hildebrand , MS , Hollingsworth , G , Kharytonov , V , Klee , EW , Koeleman , BPC , Koolen , DA , Korff , C , Küry , S , Lesca , G , Lev , D , Leventer , RJ , Mackay , MT , Macke , EL , McEntagart , M , Mohammad , SS , Monin , P , Montomoli , M , Morava , E , Moutton , S , Muir , AM , Parrini , E , Procopis , P , Ranza , E , Reed , L , Reif , PS , Rosenow , F , Rossi , M , Sadleir , LG , Sadoway , T , Schelhaas , HJ , Schneider , AL , Shah , K , Shalev , R , Sisodiya , SM , Smol , T , Stumpel , C ,....  , 2021
 
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12

Clinical and molecular description of 19 patients with GATA..:

Vera, G ; Sorlin, A ; Delplancq, G...
https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf.  , 2020
 
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14

Secondary findings from next generation sequencing: Psychol..:

Houdayer, F. ; Putois, O. ; Babonneau, M.L....
European Journal of Medical Genetics.  62 (2019)  10 - p. 103711 , 2019
 
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15

Correction: IQSEC2-related encephalopathy in males and fema..:

Mignot, Cyril ; McMahon, Aoife C ; Bar, Claire...
Mignot , C , McMahon , A C , Bar , C , Campeau , P M , Davidson , C , Buratti , J , Nava , C , Jacquemont , M L , Tallot , M , Milh , M , Edery , P , Marzin , P , Barcia , G , Barnerias , C , Besmond , C , Bienvenu , T , Bruel , A L , Brunga , L , Ceulemans , B , Coubes , C , Cristancho , A G , Cunningham , F , Dehouck , M B , Donner , E J , Duban-Bedu , B , Dubourg , C , Gardella , E , Gauthier , J , Geneviève , D , Gobin-Limballe , S , Goldberg , E M , Hagebeuk , E , Hamdan , F F , Hančárová , M , Hubert , L , Ioos , C , Ichikawa , S , Janssens , S , Journel , H , Kaminska , A , Keren , B , Koopmans , M , Lacoste , C , Laššuthová , P , Lederer , D , Lehalle , D , Marjanovic , D , Métreau , J , Michaud , J L , Miller , K , Minassian , B A , Morales , J , Moutard , M L , Munnich , A , Ortiz-Gonzalez , X R , Pinard , J M , Prchalová , D , Putoux , A , Quelin , C , Rosen , A R , Roume , J , Rossignol , E , Simon , M E H , Smol , T....  , 2019
 
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