Ebba Alkhunaizi
10PUBLICATIONS
15CO-AUTHORS
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Publications (10)
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|Oct 26, 2023
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.Ebba Alkhunaizi, Jenna Plamondon Albrecht, Mahmoud Aarabi
|Jul 20, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom
|Apr 09, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.Amanda Thomas-Wilson, John P Schacht, David Chitayat
|Dec 10, 2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.Ebba Alkhunaizi, Nicole Martin, Angie C Jelin
|Jun 08, 2020
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.Ebba Alkhunaizi, Sharon Unger, Patrick Shannon
|Aug 08, 2019
Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.Ebba Alkhunaizi, Robert K Koenekoop, Christine Saint-Martin
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Frequent Collaborators
6 joint publications
David Chitayat
1 joint publications
Ghada M H Abdel-Salam
1 joint publications
Fowzan S Alkuraya
1 joint publications
Angie C Jelin
1 joint publications
Saquib Lakhani
1 joint publications
Katherine R Forster
1 joint publications
Amanda Thomas-Wilson
1 joint publications
Fabricio da Silva Costa
1 joint publications
Elaine Maria Pereira
1 joint publications
Mythily Ganapathi
