MMG PUBLICATIONS

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Results: 4196  publications found.

, .  et al. 0

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, .  et al. 0

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Hum Mol Genet. 2013 Aug 15, .  et al. 0

Van Maldergem L

10.1093/hmg/ddt187
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, .  et al. 0

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Ciofi P, .  et al. 0

Andrieu D

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and normal head growth. In addition, .  et al. 0

we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP1 molecular screening.;2015-12;07/03/2016 15:10;23/06/2020 08:43;;1931-1940;;12;56;;Epilepsia;Epileptic patients with de novo STXBP1 mutations;;;;;;;ENG;;;;;PubMed;;PMID: 26514728

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Samantha, .  et al. 0

Nadine; Villard

microcephaly
hearing impairment - issue: umbilical hernia - volume: a secundum atrial septal defect - pages: and partial syndactyly of some fingers and toes. He had psychomotor retardation.

, .  et al. 0

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Hum Mutat. 2013 Jun, .  et al. 0

Milh M

10.1002/humu.22318
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Louis Durand J, .  et al. 0

Villard L. "Epilepsy Res. 2023 Jul;193:107160. doi: 10.1016/j.eplepsyres.2023.107160. Epub 2023 May 3." Brun L Epilepsy Res 2023 15/05/2023 10.1016/j.eplepsyres.2023.107160

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Garel C, .  et al. 0

Chantot-Bastaraud S

Faivre L
Roubertie A - issue: Moutard ML - volume: Riant F - pages: Lacombe D.

Olivera, .  et al. 0

Maria-Isabel; Gecz

Kathryn; Hussain
Bernard; Bhattacharya - issue: James A. B.; Bentham - volume: Jamie; Cosgrove - pages: Roger; Schwartz.

myopia, .  et al. 0

and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands

fused capitate-hamates
- issue: and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss - volume: Inc.;2011-04;07/03/2016 15:15;23/06/2020 08:43;;880-884;;4;155A;;Am. J. Med. Genet. A;;;;;;;;eng;;;;;PubMed;;PMID: 21416592 - pages: the Feingold syndrome.

, .  et al. 0

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Hum Mutat. 2012 Jul, .  et al. 0

Grillo E

10.1002/humu.22072
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Vaugier L, .  et al. 0

Roussel M

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Pfundt R, .  et al. 0

Busa T

Gatinois V
Nadeau G - issue: Marlin S - volume: Verloes A - pages: Khau Van Kien P.

CUL4B, .  et al. 0

MECP2

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could be due to mutations in XNP., .  et al. 0

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and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, .  et al. 0

myopia

a fused left lunate-triquetrum
Inc.;;;;; - issue: and the Tonoki syndrome are discussed - volume: and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss - pages: the Filippi syndrome.