Researcher
Gianina Ravenscroft
University of Western Australia
Statistics
107 papers found
Papers authored by Gianina Ravenscroft
Refreshing results…
,
Nigel Laing,
Royston Ong
Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?
Upload
,
Nataliya Di Donato,
Gabriele Hahn,
Mark R. Davis,
Paul D. Craven,
Gemma Poke,
Katherine R. Neas,
Teresa M. Neuhann,
William B. Dobyns,
Nigel G. Laing
Upload
,
Myriam Oufadem,
Christelle Vasnier,
Caroline Rambaud,
Patrick Nitschke,
Christine Bole-Feysot,
Cécile Masson,
Stéphane Dauger,
Cheryl Longman,
Nigel G. Laing,
Béatrice Kugener,
Damien Bonnet
and 12 other authors
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Download from doi.org
,
Gianina Ravenscroft ,
Maria Sframeli,
Karen Suetterlin,
Anna Sarkozy,
Luigi D’Argenzio,
Louise Hartley
and 25 other authors
Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy
Download from europepmc.org
,
Anita Cairns,
Nigel F. Clarke,
Mary-Louise Freckmann,
Norma B. Romero,
Denise Williams
and 11 other authors
Download from dx.doi.org
,
Flora Nolent,
Sulekha Rajagopalan,
Ana M. Meireles,
Kevin J. Paavola,
Dominique Gaillard,
Elisabeth Alanio,
Michael Buckland,
Susan Arbuckle,
Michael Krivanek,
Jérome Maluenda,
Stephen Pannell,
Rebecca Gooding,
Royston W. Ong,
Richard J. Allcock
and 7 other authors
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
Download from europepmc.org
,
Russell D. Johnsen,
Mark R. Davis,
Alastair Corbett,
Stephen Reddel,
Carolyn M. Sue,
Christina Liang,
Leigh B. Waddell,
Simranpreet Kaur,
Monkol Lek,
Kathryn N. North,
Daniel G. MacArthur,
Phillipa J. Lamont
and 2 other authors
Expanding the phenotype of GMPPB mutations
Download from doi.org
,
Emily J. Todd,
Ozge Ceyhan-Birsoy,
David S. Gokhin,
Jérome Maluenda,
Monkol Lek,
Flora Nolent,
Christopher T. Pappas
and 43 other authors
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Download from www.jci.org
,
Behzad Moghadaszadeh,
Tiffany Talabere,
Marissa Viola,
Lindsay C. Swanson,
Göknur Haliloğlu,
Beril Talim,
Kyle S. Yau,
Richard J. N. Allcock,
Nigel G. Laing,
Mark A. Perrella
and 1 other authors
Download from www.ncbi.nlm.nih.gov
,
Svetlana Bezprozvannaya,
Benjamin R. Nelson,
Nadine Beetz,
Lin Li,
She Chen,
Nigel G. Laing,
Robert W. Grange,
Rhonda Bassel-Duby,
Eric N. Olson
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
Download from www.jci.org
Missing publications? Search for publications with a matching author name.