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Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca
,
Olivier Patat
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Sandra Whalen
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Lionel Arnaud
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Giulia Barcia
et al.
Journal articles
hal-03244899v1
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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
Jérôme Maluenda
,
Constance Manso
,
Loic Quevarec
,
Alexandre Vivanti
,
Florent Marguet
et al.
Journal articles
hal-01473971v1
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi
,
Jennifer Kerkhof
,
Victor Pedro
,
Mouna Barat-Houari
,
Nathalie Ruiz-Pallares
et al.
Journal articles
hal-02538107v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-01738521v1
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Solveig Heide
,
Boris Keren
,
Thierry Billette de Villemeur
,
Sandra Chantot-Bastaraud
,
Christel Depienne
et al.
Journal articles
hal-01560200v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-02347889v1
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Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
Aurélien Perrin
,
Charles van Goethem
,
Corinne Thèze
,
Jacques Puechberty
,
Thomas Guignard
et al.
Journal articles
hal-03672757v1
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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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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Caroline Schluth Schluth-Bolard
,
Flavie Diguet
,
Nicolas Chatron
,
Pierre-Antoine Rollat-Farnier
,
Claire Bardel
et al.
Journal articles
hal-03863519v1
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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
Debby M E I Hellebrekers
,
Tom E J Theunissen
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Irenaeus F M de Coo
,
Hubert J M Smeets
,
Thuy-Linh Le
et al.
Journal articles
hal-03173467v1
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