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Search Results - Maria Bitner‐Glindzicz
Maria Bitner-Glindzicz
Maria Bitner-Glindzicz
(26 June 1963 – 20 September 2018) was a British medical doctor, honorary consultant in
clinical genetics
at
Great Ormond Street Hospital
, and a professor of human and
molecular genetics
at the
UCL Institute of Child Health
. The hospital described her work as relating to the "genetic causes of deafness in children and therapies that she hoped would one day restore vision." She researched
Norrie disease
and
Usher syndrome
, working with charities including Sparks and the
Norrie Disease Foundation
, and was one of the first colleagues involved in the
100,000 Genomes Project
at
Genomics England
.
She died after she was
doored
by a van and then hit by a taxi in London.
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1
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
by
Valda Pauzuolyte
,
Aara Patel
,
James R Wawrzynski
,
Neil J Ingham
,
Yeh Chwan Leong
,
Rajvinder Karda
,
Maria Bitner‐Glindzicz
,
Wolfgang Berger
,
Simon N Waddington
,
Karen P Steel
,
Jane C Sowden
Published 2023-10-01
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2
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
by
Dale Bryant
,
Valda Pauzuolyte
,
Neil J. Ingham
,
Aara Patel
,
Waheeda Pagarkar
,
Lucy A. Anderson
,
Katie E. Smith
,
Dale A. Moulding
,
Yeh C. Leong
,
Daniyal J. Jafree
,
David A. Long
,
Amina Al-Yassin
,
Karen P. Steel
,
Daniel J. Jagger
,
Andrew Forge
,
Wolfgang Berger
,
Jane C. Sowden
,
Maria Bitner-Glindzicz
Published 2022-02-01
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