|
|
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.
Cornel Popovici
,
Tiffany Busa
,
Chantal Missirian
,
Mathieu Milh
,
Anne Moncla
,
et al.
Journal articles
inserm-00799062v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg
,
Damien Sanlaville
,
Martine Doco-Fenzy
,
Cédric Le Caignec
,
Chantal Missirian
,
et al.
Journal articles
inserm-00541962v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Carlos Cardoso
,
Amber Boys
,
Ellena Parrini
,
Cecile Mignon-Ravix
,
Jacinta M. Mcmahon
,
et al.
Journal articles
inserm-00483473v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Extended spectrum of MBD5 mutations in neurodevelopmental disorders
Céline Bonnet
,
Asma Ali Khan
,
Emmanuel Bresso
,
Charlène Vigouroux
,
Mylène Béri
,
et al.
Journal articles
hal-01701919v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
TCF4 deletions in Pitt-Hopkins Syndrome.
Irina Giurgea
,
Chantal Missirian
,
Pierre Cacciagli
,
Sandra Whalen
,
Tessa Fredriksen
,
et al.
Journal articles
inserm-00325404v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
,
et al.
Journal articles
hal-00916763v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Laurence Desmyter
,
Michella Ghassibé
,
Nicole Revencu
,
Odile Boute
,
M. Lees
,
et al.
Journal articles
inserm-00538240v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
Estelle Colin
,
Huynh Cong
,
G. Mollet
,
Agnés Guichet
,
O. Gribouval
,
et al.
Journal articles
hal-03404021v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Estelle Lopez
,
Patrick Callier
,
Valérie Cormier-Daire
,
Didier Lacombe
,
Anne Moncla
,
et al.
Journal articles
inserm-00662892v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
,
Claire Duflos
,
Sandrine Akouete
,
Véra Georgescu
,
et al.
Journal articles
hal-03388687v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Laïla Allach El Khattabi
,
Solveig Heide
,
Jean-Hubert Caberg
,
Joris Andrieux
,
Martine Doco Fenzy
,
et al.
Journal articles
hal-01926555v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
,
et al.
Journal articles
istex
hal-01237099v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|