|
|
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
Philippe Khau van Kien
,
David Baux
,
Nathalie Pallares-Ruiz
,
Corinne Baudoin
,
Aurélie Plancke
,
et al.
Journal articles
hal-01669921v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Vincent Laugel
,
Cécile Dalloz
,
M. Durand
,
Florence Sauvanaud
,
Hans-Ulrik Kristensen
,
et al.
Journal articles
inserm-00436454v1
|
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
|
|
|
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
|
|
|
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Sylvie Jaillard
,
Séverine Drunat
,
Claude Bendavid
,
Azzedine Aboura
,
Amandine Etcheverry
,
et al.
Journal articles
istex
inserm-00434932v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|