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List of works by Julien Philippe

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

scientific article published on 03 June 2014

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

scientific article

Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae

scientific article published on 18 February 2021

Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

scientific article

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

scientific article published on 14 July 2015

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

scientific article published on 16 September 2013

Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.

scientific article published on 7 November 2011

Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.

scientific article

Polyketide Synthase Plays a Conserved Role in Otolith Formation

scientific article published on 12 June 2019

Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.

scientific article published on 6 December 2012

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

scientific article published on 23 November 2015

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