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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant
,
Audrey Sabbagh
,
Gill Spurlock
,
Ingrid Laurendeau
,
Elisa Grillo
et al.
Journal articles
istex
hal-00552390v1
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Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Xavier Ayrignac
,
Clarisse Carra Dallière
,
Nicolas Menjot de Champfleur
,
Christian Denier
,
Patrick Aubourg
et al.
Journal articles
hal-01138578v1
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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Sandrine Vuillaumier-Barrot
,
Céline Bouchet-Séraphin
,
Malika Chelbi
,
Louise Devisme
,
Samuel Quentin
et al.
Journal articles
hal-01120423v1
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Likely effect of the 2014 Ebola epidemic on HIV care in Liberia
Paul Loubet
,
Guillaume Mabileau
,
Maima Baysah
,
Cecilia Nuta
,
Masietta Taylor
et al.
Journal articles
hal-01275475v1
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Mutations in SETD2 cause a novel overgrowth condition
Armelle Luscan
,
Ingrid Laurendeau
,
Valérie Malan
,
Christine Francannet
,
Sylvie Odent
et al.
Journal articles
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
,
Etienne Rouleau
,
Adrien Briaux
,
Petros Tsantoulis
,
Pascale Mariani
et al.
Journal articles
hal-01478384v1
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