Hoda Y Tomoum

4PUBLICATIONS
35CO-AUTHORS
Infant and child healthDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (4)

|Dec 16, 2025
Very-Early-Onset Treatment-Refractory Pediatric Chronic Inflammatory Demyelinating Polyradiculoneuropathy Responsive to Multimodal Therapy.

Hoda Y Tomoum, Dalia M El-Mikkawy, Rasha H El-Owaidy

|Jun 07, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Luciana Musante, Flavio Faletra, Kolja Meier

|May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai

|Sep 09, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Shereen G Ghosh, Marcello Scala, Christian Beetz

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Frequent Collaborators

2 joint publications

Peter Bauer

1 joint publications

Christian Beetz

1 joint publications

Guy Helman

1 joint publications

Laila Selim