List of works - Claude Besmond

A new G to T polymorphism in the retinoblastoma gene RB1 detected by DGGE ⬇️

scientific article published on March 25, 1992

Analysis of fibrinogen genes in patients with congenital afibrinogenemia ⬇️

scientific article published on April 30, 1984

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

DNA analysis in patients with hereditary fructose intolerance ⬇️

scientific article published on 01 October 1984

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

scientific article published on 22 August 2019

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Enhanced cloning efficiency of mouse bone marrow macrophage progenitors correlates with increased content of CSF-1 receptor of their progeny at low oxygen tension ⬇️

scientific article published on 01 October 2003

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

scientific article published on 16 November 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Molecular cloning and sequence analysis of cDNA for human transferrin ⬇️

scientific article published on February 29, 1984

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

scientific article published on 10 October 2016

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

scientific article published on 05 June 2021

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease ⬇️

scientific article published on August 1, 1997

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

scientific article published on 01 October 2020

List of works by Claude Besmond