skip to main content
Show Results with:

Results 1 - 10 of 51  for Explore Further

results 1 2 3 4 5 next page
Refined by: author: Rio, Marlène remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to My workspace

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Science (New York, N.Y.), August 26, 2011, Vol.333(6046), pp.1161-1163 [Peer Reviewed Journal]

No full-text

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

Epileptic phenotypes in children with respiratory chain disorders.

Epilepsia, July 2010, Vol.51(7), pp.1225-1235 [Peer Reviewed Journal]

No full-text

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

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

The American Journal of Human Genetics, 05 May 2016, Vol.98(5), pp.993-1000 [Peer Reviewed Journal]

No full-text

View all versions
4
Material Type:
Article
Add to My workspace

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

The American Journal of Human Genetics, 05 June 2014, Vol.94(6), pp.891-897 [Peer Reviewed Journal]

No full-text

View all versions
5
Material Type:
Article
Add to My workspace

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

The American Journal of Human Genetics, 05 May 2016, Vol.98(5), pp.971-980 [Peer Reviewed Journal]

No full-text

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

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Science (New York, N.Y.), November 29, 2002, Vol.298(5599), pp.1779-1781 [Peer Reviewed Journal]

No full-text

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

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Nature Neuroscience, 2015, Vol.18(12), p.1731 [Peer Reviewed Journal]

No full-text

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

[Early gene expression dysregulation and intellectual disability].

Medecine sciences : M/S, February 2012, Vol.28(2), pp.128-129 [Peer Reviewed Journal]

No full-text

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

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

European Journal of Human Genetics, 2009, Vol.18(3), p.285 [Peer Reviewed Journal]

No full-text

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

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Human mutation, December 2018, Vol.39(12), pp.2047-2059 [Peer Reviewed Journal]

No full-text

View all versions

Results 1 - 10 of 51  for Explore Further

results 1 2 3 4 5 next page

Refine Search Results

Refine my results

Material type 

  1. Articles  (47)
  2. Reviews  (1)
  3. Text Resources  (1)
  4. Newspaper Articles  (1)
  5. book chapters  (1)
  6. Refine further open sub menu

Creation date 

From To
  1. Before2004  (6)
  2. 2004To2008  (8)
  3. 2009To2011  (8)
  4. 2012To2016  (17)
  5. After 2016  (12)
  6. Refine further open sub menu

Language 

  1. English  (49)
  2. French  (5)
  3. Refine further open sub menu

Try a new search

Ignore my search and look for everything

by this Author/Contributor:

  1. Rio, Marlène
  2. Munnich, Arnold
  3. Munnich, A.
  4. Rio, M.
  5. Rio, Marlene

Searching Remote Databases, Please Wait