D. Minot

发表

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation

L. Rumbach, J. Thevenon, L. Faivre, 2014, Brain and Development.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

N. Boddaert, A. Toutain, M. Picot, 2017, Clinical Genetics.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

N. Philip, J. Mandel, J. Thevenon, 2016, American journal of medical genetics. Part A.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Brain injured patients versus multiple trauma patients: some neurobehavioral and psychopathological aspects.

K. Chahraoui, P. D'Athis, M. Freysz, 2006, The Journal of trauma.