Bernice Lo

11PUBLICATIONS

115CO-AUTHORS

Medical devicesCellular immunologyEpigenetics (incl. genome methylation and epigenomics)NeonatologyNeurology and neuromuscular diseases

Get your video featured.

Publish with JoVE

Get your video featured.

Publish with JoVE

Publications (11)

Sort by Publication Date:

|Jul 10, 2026

Inherited human TFIIIA deficiency disrupts T cell development.

|Jun 11, 2026

A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation.

|Jun 26, 2025

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

Abeer Fadda, Mohamed Alsabbagh, Dhanya Vasudeva

|Jun 13, 2025

Biallelic Loss-of-Function Variant in <i>MINPP1</i> Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Aljazi Al-Maraghi, Rulan Shaath, Katherine Ford

|Apr 17, 2025

Novel <i>SCYL2</i> Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature.

Khaled Zamel, Abdulrahman Ahmed Al-Subaiey, Mohamed Alsabbagh

|Oct 03, 2023

Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.

Holm H Uhlig, Claire Booth, Judy Cho

Pageof 2

Frequent Collaborators

Ruba Benini

Ahmet Ozen

Safa Baris

Feyza Bayram Catak

Sevgi Bilgic Eltan

Ahmad Al-Shaibi

Abeer Fadda

Mehmet Cihangir Catak

2 joint publications

Elif Karakoc-Aydiner

2 joint publications

Royala Babayeva

Frequent Collaborators

Ruba Benini

Ahmet Ozen

Safa Baris

Feyza Bayram Catak