Daniel Amsallem

Besancon, France

Last Updated: 09/26/2026

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Found 12 publications

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Journal: The British journal of dermatology

Published: June 26, 2025

Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.

Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 28, 2025

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Journal: Clinical genetics

Published: December 03, 2023

The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.

The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.

Journal: Neuropediatrics

Published: December 08, 2021

Impact of pharmacist medication review for paediatric patients: an observational study.

Impact of pharmacist medication review for paediatric patients: an observational study.

Journal: The International journal of pharmacy practice

Published: April 21, 2021

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 27, 2019

Type 3 Gaucher disease, diagnostic in adulthood.

Type 3 Gaucher disease, diagnostic in adulthood.

Journal: Molecular genetics and metabolism reports

Published: July 05, 2017

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Journal: Journal of inherited metabolic disease

Published: February 20, 2017

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

Journal: Clinical genetics

Published: January 11, 2016

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

Journal: Clinical genetics

Published: January 06, 2016

DYRK1A mutations in two unrelated patients.

DYRK1A mutations in two unrelated patients.

Journal: European journal of medical genetics

Published: December 06, 2014

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Journal: European journal of human genetics : EJHG

Published: June 29, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026