Researcher
Sian Ellard
Royal Devon and Exeter NHS Foundation Trust
Statistics
4 papers found
All papers authored by Sian Ellard
Refreshing results…
2021
Schanzer A.,
Anne Schänzer 
,
Melanie T. Achleitner,
Achleitner Mt,
Dietrich Trümbach ,
Trumbach D.,
Laurence Hubert ,
Hubert L.,
Arnold Munnich ,
Munnich A.,
Barbara Ahlemeyer,
Maha M. AlAbdulrahim,
Ahlemeyer B.,
Philipp A. Greif ,
AlAbdulrahim Mm
and 47 other authors
,
Melanie T. Achleitner,
Achleitner Mt,
Dietrich Trümbach ,
Trumbach D.,
Laurence Hubert ,
Hubert L.,
Arnold Munnich ,
Munnich A.,
Barbara Ahlemeyer,
Maha M. AlAbdulrahim,
Ahlemeyer B.,
Philipp A. Greif ,
AlAbdulrahim Mm
and 47 other authors
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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2020
Elisa De Franco ,
De Franco E.,
Maria Lytrivi ,
Lytrivi M.,
Ibrahim H.,
Hazem Ibrahim ,
Hossam Montaser,
Montaser H.,
Wakeling Mn,
Matthew N. Wakeling,
Fantuzzi F.,
Federica Fantuzzi,
Kashyap Patel,
Patel K.,
Demarez C.
and 63 other authors
,
De Franco E.,
Maria Lytrivi ,
Lytrivi M.,
Ibrahim H.,
Hazem Ibrahim ,
Hossam Montaser,
Montaser H.,
Wakeling Mn,
Matthew N. Wakeling,
Fantuzzi F.,
Federica Fantuzzi,
Kashyap Patel,
Patel K.,
Demarez C.
and 63 other authors
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
Download from doi.org
Indraneel Banerjee,
Senthil Senniappan,
Thomas W. Laver ,
Richard Caswell ,
Martin Zenker ,
Klaus Mohnike ,
Tim Cheetham,
Matthew N. Wakeling ,
Dunia Ismail,
Belinda Lennerz,
Miranda Splitt,
Merih Berberoğlu ,
Susann Empting,
Martin Wabitsch ,
Simone Pötzsch
and 7 other authors
Download from wellcomeopenresearch.org
,
Richard Caswell ,
Martin Zenker ,
Klaus Mohnike ,
Tim Cheetham,
Matthew N. Wakeling ,
Dunia Ismail,
Belinda Lennerz,
Miranda Splitt,
Merih Berberoğlu ,
Susann Empting,
Martin Wabitsch ,
Simone Pötzsch
and 7 other authors
Download from wellcomeopenresearch.org
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