Researcher
Gianina Ravenscroft
University of Western Australia
Statistics
107 papers found
All papers authored by Gianina Ravenscroft
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Amy J. LaCroix,
Phillipa Lamont,
Richard H. Roxburgh,
Miriam J. Rodrigues,
Mark Davis,
Heather C. Mefford,
Nigel G. Laing,
Aaron R. Quinlan
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Gianina Ravenscroft
A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
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Ana Töpf,
Rocio Bengoechea,
Jennifer Duff,
Richard Charlton,
Solange Kapetanovic Garcia,
Cristina Domínguez-González,
Abdulaziz Alsaman,
Aurelio Hernández-Laín,
Luis Varona Franco,
Monica Elizabeth Ponce Sanchez,
Sarah J. Beecroft,
Hayley Goullee,
Jil Daw,
Ankan Bhadra
and 7 other authors
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
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Recent advances in our understanding of genetic rhabdomyolysis
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Nigel G. Laing,
Rhonda L. Taylor
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Alison D. Archibald,
Lucinda Freeman,
Belinda McClaren,
Anaita Kanga-Parabia,
Martin B. Delatycki,
Nigel G. Laing,
Edwin P. Kirk,
Ainsley J. Newson,
psycho-Social and implementation science teams and the Gene Selection Committee Mackenzie's Mission counselling,
Kristine Barlow-Stewart,
Stephanie Best,
Kirsten Boggs,
Camron Ebzery
and 20 other authors
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Cheryl Longman,
Maria Elena Farrugia,
Solange Kapetanovic Garcia,
Didem Ardicli,
Haluk Topaloglu,
Aurelio Hernández-Laín,
Diclehan Orhan,
Mehmet Alikasifoglu,
Jennifer Duff,
Sabine Specht,
Kristen Nowak,
Gianina Ravenscroft ,
Katherine Chao,
Zaheer Valivullah
and 5 other authors
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
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Sanjog R. Chintalaphani ,
Hasindu Gamaarachchi ,
James M. Ferguson ,
Sandy S. Pineda ,
Carolin K. Scriba,
Michel Tchan ,
Victor Fung ,
Karl Ng ,
Andrea Cortese,
Henry Houlden ,
Carol Dobson-Stone ,
Lauren Fitzpatrick,
Glenda Halliday ,
Gianina Ravenscroft
and 6 other authors
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Laure Caccavelli,
Marco Savarese ,
Anna Vihola,
Manu Jokela,
Mridul Johari ,
Thierry Capiod,
Marine Madrange,
Enrico Bugiardini ,
Stefen Brady,
Rosaline Quinlivan,
Ashirwad Merve,
Renata Scalco,
David Hilton-Jones,
Henry Houlden
and 24 other authors
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
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Marcello Pignataro ,
Marco Borsari ,
Carlo Augusto Bortolotti ,
Giulia Di Rocco ,
Gianina Ravenscroft ,
Paul G. Furtmüller ,
Christian Obinger ,
Marco Sola ,
Gianantonio Battistuzzi
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Genetic neuromuscular disorders: what is the best that we can do?
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Joshua Clayton,
Fathimath Faiz,
Padma Sivadorai,
Di Milnes,
Rob Cincotta,
Phillip Moon,
Ben Kamien,
Matthew Edwards,
Martin Delatycki,
Phillipa J. Lamont,
Sophelia H. S. Chan,
Alison Colley,
Alan,
Felicity Collins
and 8 other authors
Neurogenetic fetal akinesia and arthrogryposis
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