Concepedia

B. Isidor

BI

3

Publications

166

Citations

3

H-Index

2014

Active since

Affiliations

Génétique Médicale & Génomique Fonctionelle(Current)

B. Isidor is an author at Génétique Médicale & Génomique Fonctionelle specializing in medicine, neurogenetics, and chromosome 9.

Top concepts

MedicineNeurogeneticsGeneticsNeurologyPathologyEngineeringEpigeneticsChromosome 9NeuroscienceSystems Biology

Publications per year

2014–2021

3

Publications

3

Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

Miriam J. Smith, B. Isidor, Christian Beetz et al. · Neurology · 2014 · 121 citations · Full text

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Christèle Dubourg, Frédérique Bonnet‐Brilhault, Annick Toutain et al. · Molecular Syndromology · 2014 · 29 citations · Full text

Engineering, Genetics, Genetic Epidemiology +25

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Quentin Thomas, Thierry Gautier, Dana Marafi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Intellectual Impairment, Neuropsychological Functioning, Variable Expressivity +7

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