Heba Morsy

University College London

United Kingdom

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Articles (11)

Year:

2024

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2023

Year:

2022

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2022

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2021

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2020

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2020

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2020

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2020

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2020

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2020

Collaborators (6)

James Thompson

University of Southampton

UNITED KINGDOM

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Ruxandra Bachmann-Gagescu

SNF-Assistant Professor

University of Zurich

SWITZERLAND

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Anne Bergougnoux

Assistant Professor

University of Montpellier

FRANCE

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Damian Smedley

UNITED KINGDOM

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Andre Brown

Imperial College London

UNITED KINGDOM

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Sandrina Correia

Karolinska Institutet

SWEDEN

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Heba Morsy

Research Interests

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Contact this professor

Articles (11)

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Erratum: The morbid genome of ciliopathies: an update (Genetics in Medicine (2022) 24(2) (262–288), (S1098360021053582), (10.1016/j.gim.2021.10.008))

Lgr5, Hes1 And Atoh1 In Young Rectal Cancer Patients In Egyptian

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

The morbid genome of ciliopathies: an update

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity

Collaborators (6)

James Thompson

Ruxandra Bachmann-Gagescu

Anne Bergougnoux

Damian Smedley

Andre Brown

Sandrina Correia

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