List of works - Amal AlHashem - Paulina

List of works by Amal AlHashem

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

scientific article published on 27 September 2018

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

scientific article published on 16 May 2019

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

scientific article

Smith–Lemli–Opitz syndrome among Arabs ⬇️

scientific article published on July 18, 2011

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

scientific article published on 28 August 2020

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