Search filters

List of works by Ebba Alkhunaizi

Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome

scientific article published on 20 December 2018

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

scientific article published on 16 January 2019

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants

scientific article published on 07 June 2020

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome

scientific article published on 07 August 2019

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.

scientific article published on 21 April 2017

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

scientific article published on 19 October 2021

Warsaw breakage syndrome: Further clinical and genetic delineation

scientific article published on 14 September 2018

Paulina is supported by:

About Paulina

Help