Noha Elserafy

ORCID: 0000-0002-5598-6677

Publications (4)

Mono and biallelic variants in

medRxiv : the preprint server for health sciences

Avec: Clara Houdayer , A Marie Phillips , Marie Chabbert , Jennifer Bourreau , Reza Maroofian , Henry Houlden , Kay Richards , Nebal Waill Saadi , Eliška Dad'ová , Patrick Van Bogaert , Mailys Rupin , Boris Keren , Perrine Charles , Thomas Smol , Audrey Riquet , Lynn Pais , Anne O'Donnell-Luria , Grace E VanNoy , Allan Bayat , Rikke S Møller , Kern Olofsson , Rami Abou Jamra , Steffen Syrbe , Majed Dasouki , Laurie H Seaver , Jennifer A Sullivan , Vandana Shashi , Fowzan S Alkuraya , Alexis F Poss , J Edward Spence , Rhonda E Schnur , Ian C Forster , Chaseley E Mckenzie , Cas Simons , Min Wang , Penny Snell , Kavitha Kothur , Michael Buckley , Tony Roscioli , Noha Elserafy , Benjamin Dauriat , Vincent Procaccio , Daniel Henrion , Guy Lenaers , Estelle Colin , Nienke E Verbeek , Koen L Van Gassen , Claire Legendre , Dominique Bonneau , Christopher A Reid , Katherine B Howell , Alban Ziegler , Christian Legros

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.

JIMD reports

Avec: Noha Elserafy , Sue Thompson , Troy Dalkeith , Michael Stormon , Gordon Thomas , Albert Shun , Janine Sawyer , Shanti Balasubramanian , Kaustuv Bhattacharya , Nadia Badawi , Carolyn Ellaway

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Rachel Youjin Oh , Ashish R Deshwar , Ashish Marwaha , Nesrin Sabha , Michael Tropak , Huayun Hou , Kyoko E Yuki , Michael D Wilson , Patrick Rump , Roelineke Lunsing , Noha Elserafy , Clara W T Chung , Stacy Hewson , Tanja Klein-Rodewald , Julia Calzada-Wack , Adrián Sanz-Moreno , Markus Kraiger , Susan Marschall , Helmut Fuchs , Valerie Gailus-Durner , Martin Hrabe de Angelis , James Dowling , Andreas Schulze

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Movement disorders clinical practice

Avec: Laura J Williams , Sophie Waller , Jessica Qiu , Emily Innes , Noha Elserafy , Peter Procopis , Hugo Sampaio , Neil Mahant , Michel C Tchan , Shekeeb S Mohammad , Hugo Morales-Briceño , Victor S C Fung

Réseau de co-auteurs

Clara Houdayer 1 collaboration

A Marie Phillips 1 collaboration

Marie Chabbert 1 collaboration

Jennifer Bourreau 1 collaboration

Reza Maroofian 1 collaboration

Henry Houlden 1 collaboration

Kay Richards 1 collaboration

Nebal Waill Saadi 1 collaboration

Eliška Dad'ová 1 collaboration

Patrick Van Bogaert 1 collaboration

Mailys Rupin 1 collaboration

Boris Keren 1 collaboration

Perrine Charles 1 collaboration

Thomas Smol 1 collaboration

Audrey Riquet 1 collaboration

Lynn Pais 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Grace E VanNoy 1 collaboration

Allan Bayat 1 collaboration

Rikke S Møller 1 collaboration

Kern Olofsson 1 collaboration

Rami Abou Jamra 1 collaboration

Steffen Syrbe 1 collaboration

Majed Dasouki 1 collaboration

Laurie H Seaver 1 collaboration

Jennifer A Sullivan 1 collaboration

Vandana Shashi 1 collaboration

Fowzan S Alkuraya 1 collaboration

Alexis F Poss 1 collaboration

J Edward Spence 1 collaboration

Rhonda E Schnur 1 collaboration

Ian C Forster 1 collaboration

Chaseley E Mckenzie 1 collaboration

Cas Simons 1 collaboration

Min Wang 1 collaboration

Penny Snell 1 collaboration

Kavitha Kothur 1 collaboration

Michael Buckley 1 collaboration

Tony Roscioli 1 collaboration

Benjamin Dauriat 1 collaboration

Vincent Procaccio 1 collaboration

Daniel Henrion 1 collaboration

Guy Lenaers 1 collaboration

Estelle Colin 1 collaboration

Nienke E Verbeek 1 collaboration

Koen L Van Gassen 1 collaboration

Claire Legendre 1 collaboration

Dominique Bonneau 1 collaboration

Christopher A Reid 1 collaboration

Katherine B Howell 1 collaboration

Alban Ziegler 1 collaboration

Christian Legros 1 collaboration

Sue Thompson 1 collaboration

Troy Dalkeith 1 collaboration

Michael Stormon 1 collaboration

Gordon Thomas 1 collaboration

Albert Shun 1 collaboration

Janine Sawyer 1 collaboration

Shanti Balasubramanian 1 collaboration

Kaustuv Bhattacharya 1 collaboration

Nadia Badawi 1 collaboration

Carolyn Ellaway 1 collaboration

Rachel Youjin Oh 1 collaboration

Ashish R Deshwar 1 collaboration

Ashish Marwaha 1 collaboration

Nesrin Sabha 1 collaboration

Michael Tropak 1 collaboration

Huayun Hou 1 collaboration

Kyoko E Yuki 1 collaboration

Michael D Wilson 1 collaboration

Patrick Rump 1 collaboration

Roelineke Lunsing 1 collaboration

Clara W T Chung 1 collaboration

Stacy Hewson 1 collaboration

Tanja Klein-Rodewald 1 collaboration

Julia Calzada-Wack 1 collaboration

Adrián Sanz-Moreno 1 collaboration

Markus Kraiger 1 collaboration

Susan Marschall 1 collaboration

Helmut Fuchs 1 collaboration

Valerie Gailus-Durner 1 collaboration

Martin Hrabe de Angelis 1 collaboration

James Dowling 1 collaboration

Andreas Schulze 1 collaboration

Laura J Williams 1 collaboration

Sophie Waller 1 collaboration

Jessica Qiu 1 collaboration

Emily Innes 1 collaboration

Peter Procopis 1 collaboration

Hugo Sampaio 1 collaboration

Neil Mahant 1 collaboration

Michel C Tchan 1 collaboration

Shekeeb S Mohammad 1 collaboration

Hugo Morales-Briceño 1 collaboration

Victor S C Fung 1 collaboration