skip to main content
Show Results with:

Results 1 - 10 of 11  for Explore Further

results 1 2 next page
Refined by: author: Munnich, Arnold remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to My workspace

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

American Journal of Medical Genetics. Part A, Jun 2013, Vol.161(6), pp.1370-1375 [Peer Reviewed Journal]

No full-text

View all versions
2
Material Type:
Article
Add to My workspace

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Human Mutation, Dec 2016, Vol.37(12), pp.1354-1362 [Peer Reviewed Journal]

No full-text

View all versions
3
Material Type:
Article
Add to My workspace

NDP gene mutations in 14 French families with Norrie disease

Human Mutation, Dec 2003, Vol.22(6), p.499 [Peer Reviewed Journal]

No full-text

View all versions
4
RPL10 Mutation Segregating in a Family with X-Linked Syndromic Intellectual Disability
Material Type:
Article
Add to My workspace

RPL10 Mutation Segregating in a Family with X-Linked Syndromic Intellectual Disability

American Journal Of Medical Genetics Part A, 2015 Aug, Vol.167(8), pp.1908-1912 [Peer Reviewed Journal]

No full-text

View all versions
5
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence
Material Type:
Article
Add to My workspace

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Human Mutation, 2014 Aug, Vol.35(8), pp.1011-1020 [Peer Reviewed Journal]

No full-text

View all versions
6
Material Type:
Article
Add to My workspace

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability

American Journal of Medical Genetics. Part A, Aug 2015, Vol.167(8), pp.1908-1912 [Peer Reviewed Journal]

No full-text

View all versions
7
Material Type:
Article
Add to My workspace

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Human Mutation, Oct 2002, Vol.20(4), p.322 [Peer Reviewed Journal]

No full-text

View all versions
8
Material Type:
Article
Add to My workspace

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

Human Mutation, Jan 2010, Vol.31(1), pp.20-26 [Peer Reviewed Journal]

No full-text

View all versions
9
Material Type:
Article
Add to My workspace

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

Human Mutation, Dec 2007, Vol.28(12), p.1245 [Peer Reviewed Journal]

No full-text

View all versions
10
Material Type:
Article
Add to My workspace

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

Human Mutation, Jan 2007, Vol.28(1), p.81 [Peer Reviewed Journal]

No full-text

View all versions

Results 1 - 10 of 11  for Explore Further

results 1 2 next page

Refine Search Results

Creation date 

From To
  1. Before2003  (1)
  2. 2003To2006  (1)
  3. 2007To2009  (2)
  4. 2010To2013  (3)
  5. After 2013  (4)
  6. Refine further open sub menu

Try a new search

Ignore my search and look for everything

by this Author/Contributor:

  1. Munnich, Arnold
  2. Bonnefont, Jean-Paul
  3. Kaplan, Josseline
  4. Rozet, Jean-Michel
  5. Lyonnet, Stanislas

Searching Remote Databases, Please Wait