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Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
Anne Philippe
,
Valérie Malan
,
Marie-Line Jacquemont
,
Nathalie Boddaert
,
Jean-Paul Bonnefont
et al.
Journal articles
istex
hal-00877108v1
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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Soumaya Mougou-Zerelli
,
Sophie Thomas
,
Emmanuelle Szenker
,
Sophie Audollent
,
Nadia Elkhartoufi
et al.
Journal articles
inserm-00420359v1
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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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New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger
,
Amale Ichkou
,
Soumaya Mougou-Zerelli
,
Martine Le Merrer
,
Géraldine Goudefroye
et al.
Journal articles
hal-01064583v1
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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
Carine Le Goff
,
Clementine Mahaut
,
Armand Bottani
,
Berenice Doray
,
Alice Goldenberg
et al.
Journal articles
istex
hal-01064046v1
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Henri Margot
,
Guilaine Boursier
,
Claire Duflos
,
Elodie Sanchez
,
Jeanne Amiel
et al.
Journal articles
hal-02268419v1
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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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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Claire Bar
,
Giulia Barcia
,
Mélanie Jennesson
,
Gwenaël Le Guyader
,
Amy Schneider
et al.
Journal articles
hal-02302579v1
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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A from acrodysostosis to acroscyphodysplasia
Caroline Michot
,
Carine Le Goff
,
Edward Blair
,
Patricia Blanchet
,
Yline Capri
et al.
Journal articles
hal-01863363v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Claire Bar
,
Mathieu Kuchenbuch
,
Giulia Barcia
,
Amy Schneider
,
Mélanie Jennesson
et al.
Journal articles
hal-02959318v1
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