Publications by authors named "Benoit Delorme"

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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Marine Tessarech, Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Benoit Delorme

Genet Med· May 2024

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The correlation between prenatal ultrasound and MRI in isolated periventricular pseudocysts: Analysis of 10 years' experience at the University Hospital of Angers.
Alisée Pengam, Benoit Delorme, Françoise Boussion, Patrick Van Bogaert, Pierre-Emmanuel Bouet

Arch Pediatr· October 2023

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Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Marine Tessarech, Magali Gorce, Françoise Boussion, Jean-Philippe Bault, Stéphane Triau, Benoit Delorme

Am J Med Genet A· March 2020

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Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort.
François Bastard, Arnaud Bonnard, Véronique Rousseau, Thomas Gelas, Laurent Michaud, Benoit Delorme

J Pediatr Surg· April 2018

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Perineal nodular induration: a report of three cases in France.
Xavier Grimaux, Benoit Delorme, Christian Le Clec'h

Int J Dermatol· April 2017

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Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
Estelle Colin, Dominique Bonneau, Francoise Boussion, Agnès Guichet, Benoit Delorme

Prenat Diagn· July 2012

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MR cholangiopancreatography versus endoscopic sonography in suspected common bile duct lithiasis: a prospective, comparative study.
Christophe Aubé, Benoit Delorme, Thierry Yzet, Pascal Burtin, Jérome Lebigot

AJR Am J Roentgenol· January 2005

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