skip to main content
Primo Advanced Search
Advanced search    Note: Search terms must be in lower case
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Date range searching is not available for Article, Issue and Archived Website records; nor does it work for Audio records.

Results 1 - 10 of 22  for Everything in this catalogue

results 1 2 3 next page
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to My workspace

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum

Scala, Marcello et al.

Pediatric blood & cancer. Volume 66:Number 9 (2019, September); pp n/a-n/a -- John Wiley

Online access

2
Material Type:
Article
Add to My workspace

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum

Scala, Marcello et al.

Pediatric blood & cancer. Volume 66:Issue 9 (2019); pp n/a-n/a -- John Wiley

Online access

3
Material Type:
Article
Add to My workspace

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

Prontera, Paolo et al.

Human mutation. Volume 36:Issue 11 (2015); pp 1043-1047 -- Wiley Blackwell

Online access

4
Material Type:
Article
Add to My workspace

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

Venuto, Santina et al.

Biochimica et biophysica acta. Volume 1863:Number 2 (2019, February); pp 491-501 -- Elsevier Science

Online access

5
Material Type:
Article
Add to My workspace

TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

Alfaiz, Ali Abdullah et al.

Human mutation. Volume 35:Issue 4 (2014, April); pp 447-451 -- Wiley Blackwell

Online access

6
Material Type:
Article
Add to My workspace

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

Micale, Lucia et al.

Journal of biomedicine and biotechnology. Volume 2009 (2009) -- Hindawi Pub. Corp -- [Available from] -- [PubMed Central]

Online access

7
Material Type:
Article
Add to My workspace

A novel MED12 mutation: Evidence for a fourth phenotype

Prontera, Paolo et al.

American journal of medical genetics. Part A. Volume 170:Issue 9 (2016); pp 2377-2382 -- Wiley-Liss

Online access

8
Material Type:
Article
Add to My workspace

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

Malerba, Natascia

Stem cell research. Volume 40: (2019, October) -- Elsevier

Online access

9
Material Type:
Article
Add to My workspace

Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay

Scrima, Rosella et al.

Biochimica et biophysica acta. Volume 1857:Issue 8 (2016); pp 1344-1351 -- Elsevier Science

Online access

10
Material Type:
Article
Add to My workspace

A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

Nardella, Grazia et al.

Human mutation. Volume 39:Issue 12 (2018); pp 1885-1900 -- Wiley Blackwell

Online access

Results 1 - 10 of 22  for Everything in this catalogue

results 1 2 3 next page

Refine Search Results

Refine my results

Access Options 

  1. Request to Reading Room  (16)
  2. Online: Reading Room only  (14)
  3. Purchase a copy  (12)
  4. Refine further open sub menu

Creation date 

From To
  1. Before2011  (1)
  2. 2011To2011  (2)
  3. 2012To2013  (1)
  4. 2014To2015  (3)
  5. After 2015  (15)
  6. Refine further open sub menu

Additional Features 

  1. Abstract  (17)
  2. No Abstract  (5)
  3. Refine further open sub menu

Searching Remote Databases, Please Wait