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Internal carotid artery hypoplasia A new clinical feature in pseudoxanthoma elasticum
Loukman Omarjee
,
Jacques-Olivier Fortrat
,
Antoine Larralde
,
Estelle Le Pabic
,
Gilles Kauffenstein
et al.
Journal articles
hal-02161036v1
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Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients
Sophie Ronceray
,
Juliette Miquel
,
Antoine Lucas
,
Gérald E. Piérard
,
Trinh Hermanns-Lê
et al.
Journal articles
hal-01064292v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot
,
Aoife Mcmahon
,
Claire Bar
,
Philippe Campeau
,
David Davidson
et al.
Journal articles
hal-01919142v1
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.
Lucas Fares-Taie
,
Sylvie Gerber
,
Akihiko Tawara
,
Arturo Ramirez-Miranda
,
Jean-Yves Douet
et al.
Journal articles
hal-01134461v1
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Matthew A. Deardorff
,
Masashige Bando
,
Ryuichiro Nakato
,
Erwan Watrin
,
Takehiko Itoh
et al.
Journal articles
inserm-00728375v1
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino
,
Helen M. Stuart
,
Kate E. Chandler
,
Neil A. Roberts
,
Ruth Armstrong
et al.
Journal articles
hal-01699166v1
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