Publications by authors named "Noha Elserafy"

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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Noha Elserafy

Ann Neurol· September 2025

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RICTOR variants are associated with neurodevelopmental disorders.
Raphael Carapito, Anne Molitor, Lisa Pavinato, Alaa Skeyni, Magalie Lambert, Noha Elserafy

Eur J Hum Genet· July 2025

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Mono and biallelic variants in cause severe neurodevelopmental disorders.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Noha Elserafy

medRxiv· March 2024

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DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Laura J Williams, Sophie Waller, Jessica Qiu, Emily Innes, Noha Elserafy

Mov Disord Clin Pract· January 2024

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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Noha Elserafy

Genet Med· November 2022

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual, Noha A Elserafy

Genet Med· April 2022

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual, Noha A Elserafy

Genet Med· December 2021

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Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.
Noha Elserafy, Sue Thompson, Troy Dalkeith, Michael Stormon, Gordon Thomas

JIMD Rep· July 2021

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Short-acting erythropoiesis-stimulating agents for anaemia in predialysis patients.
Deirdre Hahn, Christopher I Esezobor, Noha Elserafy, Angela C Webster, Elisabeth M Hodson

Cochrane Database Syst Rev· January 2017

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