skip to main content
Show Results with:
results 1 2 next page
Refined by: creation date: After 2004 remove journal title: American Journal of Human Genetics remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to My workspace

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

American journal of human genetics, May 2, 2019, Vol.104(5), pp.948-956 [Peer Reviewed Journal]

No full-text

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

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

American journal of human genetics, February 2, 2017, Vol.100(2), pp.334-342 [Peer Reviewed Journal]

No full-text

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

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

American journal of human genetics, July 5, 2018, Vol.103(1), pp.3-18 [Peer Reviewed Journal]

No full-text

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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

American journal of human genetics, January 5, 2017, Vol.100(1), pp.75-90 [Peer Reviewed Journal]

No full-text

View all versions
5
Material Type:
Article
Add to My workspace
6
Material Type:
Article
Add to My workspace

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

American journal of human genetics, November 1, 2018, Vol.103(5), pp.666-678 [Peer Reviewed Journal]

No full-text

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

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

American journal of human genetics, 07 March 2019, Vol.104(3), pp.562 [Peer Reviewed Journal]

No full-text

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

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

American journal of human genetics, July 5, 2018, Vol.103(1), pp.144-153 [Peer Reviewed Journal]

No full-text

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

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

American journal of human genetics, November 7, 2019, Vol.105(5), pp.933-946 [Peer Reviewed Journal]

No full-text

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

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

American journal of human genetics, February 1, 2018, Vol.102(2), pp.309-320 [Peer Reviewed Journal]

No full-text

View all versions
results 1 2 next page

Refine Search Results

Try a new search

Ignore my search and look for everything

by this Author/Contributor:

  1. Rankin, Julia
  2. Bitner-Glindzicz, Maria
  3. Deshpande, Charu
  4. Paterson, Joan
  5. Josifova, Dragana

on this subject:

  1. Biology
  2. Humans
  3. Female
  4. Male
  5. Adult

Searching Remote Databases, Please Wait