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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Marc Engelen
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Stephan Kemp
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Marianne de Visser
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Björn van Geel
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Ronald Wanders
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et al.
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inserm-00755770v1
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Altered emotional and locomotor responses in mice deficient in the transcription factor CREM
Rafael Maldonado
,
Claire Smadja
,
Cristina Mazucchelli
,
Paolo Sassone-Corsi
Proceedings of the National Academy of Sciences of the United States of America, 1999, 96 (24), pp.14094-14099. ⟨10.1073/pnas.96.24.14094⟩
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hal-03989766v1
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First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis
Eric Pasmant
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Philippe Goussard
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Laetitia Baranes
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Ingrid Laurendeau
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Samuel Quentin
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hal-00685384v1
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Rett networked database: An integrated clinical and genetic network of rett syndrome databases
Elisa Grillo
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Laurent Villard
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Angus Clarke
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Bruria Ben Zeev
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hal-01668676v1
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Mutations in SETD2 cause a novel overgrowth condition
Armelle Luscan
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Ingrid Laurendeau
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Valérie Malan
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Christine Francannet
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Sylvie Odent
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hal-01064581v1
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Mutational analysis of anal cancers demonstrates frequent PIK3CA mutations associated with poor outcome after salvage abdominoperineal resection
Wulfran Cacheux
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Etienne Rouleau
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Adrien Briaux
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Petros Tsantoulis
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hal-01478384v1
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UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population
Pauline Romanet
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Amira Mohamed
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Sophie Giraud
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Marie-Françoise Odou
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Marie-Odile North
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hal-01975538v1
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A Heterozygous Mutation Disrupting the SPAG16 Gene Results in Biochemical Instability of Central Apparatus Components of the Human Sperm Axoneme1
Zhibing Zhang
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Maimoona A Zariwala
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Maha M Mahadevan
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Pedro Caballero-Campo
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Xuening Shen
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inserm-04145216v1
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