Dora Steel
8PUBLICATIONS
24CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|Apr 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.Dora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada
|Oct 23, 2022
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.Dora Steel, Aikaterini Vezyroglou, Katy Barwick
|Jun 30, 2022
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.C A P F Alves, O Sherbini, F D'Arco
|Dec 11, 2020
Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".Michael Zech, Dora Steel, Manju A Kurian
|Aug 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.Dora Steel, Michael Zech, Chen Zhao
|Feb 26, 2020
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.Tarishi Nemani, Dora Steel, Marios Kaliakatsos
Pageof 2
Frequent Collaborators
2 joint publications
Manju A Kurian
1 joint publications
C A P F Alves
1 joint publications
G B Ferrero
1 joint publications
D Carli
1 joint publications
M Tartaglia
1 joint publications
T B Balci
1 joint publications
J Hoefele
1 joint publications
E R Roeder
1 joint publications
R O Littlejohn
1 joint publications
D Lessel
