Delphine Minot

Centre De Référence Anomalies Du Développement Et Syndromes Malformatifs De L'interrégion Est Et FHU TRANSLAD
Dijon, France

Last Updated: 09/26/2026

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Found 9 publications

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Journal: European journal of medical genetics

Published: September 03, 2020

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

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

Journal: European journal of medical genetics

Published: June 13, 2019

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

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

Journal: Clinical genetics

Published: October 28, 2016

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

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

Journal: Clinical genetics

Published: October 05, 2015

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

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

Journal: American journal of medical genetics. Part A

Published: August 28, 2015

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

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

Journal: European journal of human genetics : EJHG

Published: May 26, 2015

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

Journal: Brain & development

Published: December 18, 2012

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

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

Journal: European journal of human genetics : EJHG

Published: June 21, 2012

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

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

Journal: Journal of medical genetics

Published: June 14, 2012

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Last Updated: 09/26/2026