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BMJ Open|January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocolMaxime Luu, Pierre Vabres, Aurélie Espitalier, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinomaJean-Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, et al.
Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohortPhilippine Garret, Martin Chevarin, Antonio Vitobello, et al.
Acta Dermato-Venereologica|November 8, 2017
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPEAnnabel Maruani, Marine Durieux-Verde, Juliette Mazereeuw-Hautier, et al.
Human Molecular Genetics|August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyClaire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
Human Mutation|July 27, 2019
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, et al.
Trials|June 28, 2018
Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase designAnnabel Maruani, Olivia Boccara, Didier Bessis, et al.
JAMA Dermatology|September 15, 2021
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS TrialAnnabel Maruani, Elsa Tavernier, Olivia Boccara, et al.
Clinical Genetics|July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statementSofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
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