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1 . Academic Journal
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
저자
by
Valda Pauzuolyte
;
Aara Patel
;
James R Wawrzynski
;
Neil J Ingham
;
Yeh Chwan Leong
, et al.
소스
EMBO Molecular Medicine, Vol 15, Iss 10, Pp n/a-n/a (2023)
Open Access (Wiley)
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7 . Academic Journal
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
저자
by
Dale Bryant
;
Valda Pauzuolyte
;
Neil J. Ingham
;
Aara Patel
;
Waheeda Pagarkar
, et al.
소스
JCI Insight, Vol 7, Iss 3 (2022)
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7 . Academic Journal
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
저자
by
Amina Al Yassin
;
Felice D’Arco
;
Matías Morín
;
Waheeda Pagarkar
;
Katherine Harrop-Griffiths
, et al.
소스
Genes, Vol 10, Iss 7, p 529 (2019)
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7 .
Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
저자
by
Yeh Chwan Leong
;
Valentina Di Foggia
;
Hema Pramod
;
Maria Bitner-Glindzicz
;
Aara Patel
, et al.
소스
Stem Cell Reports
. 17:2421-2437
Full Text (ScienceDirect O/A)
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7 .
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
저자
by
Gill Wilson
;
Anna de Burca
;
Marta Bleda
;
Lucy R. Wedderburn
;
Matthew Welland
, et al.
소스
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
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7 .
WFS1-Associated Optic Neuropathy : Genotype-Phenotype Correlations and Disease Progression
저자
by
Anna Majander
;
Neringa Jurkute
;
Florence Burté
;
Kristian Brock
;
Catarina João
, et al.
소스
Open Access (OpenAIRE)
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7 .
Cumulative risk factors contributing to hearing loss in preterm infants
저자
by
Kathy Chant
;
Maria Bitner-Glindzicz
;
Neil Marlow
.
소스
Archives of disease in childhood. Fetal and neonatal edition
.
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5 . Academic Journal
PRPS1基因功能缺失性突变导致X-连锁非综合征性DFN2型耳聋 / Functional deficient mutation of PRPS1 gene induced X-linked non-syndromic DFN2 hearing impairment
저자
by
韩冰
;
李建忠
;
程静
;
金占国
;
李旭
, et al.
소스
中华耳科学杂志 / CHINESE JOURNAL OF OTOLOGY
. 8(1):1-8
Find it @ DONGA
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7 .
The Oculome Panel Test
저자
by
Tommaso B. Jannini
;
Vijay Tailor
;
Ken K. Nischal
;
Rodney Nyanhete
;
Lily Islam
, et al.
소스
Ophthalmology
. 126:888-907
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7 .
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
저자
by
Dale Bryant
;
Valda Pauzuolyte
;
Neil J. Ingham
;
Aara Patel
;
Waheeda Pagarkar
, et al.
소스
JCI Insight, 7 (3)
Open Access (OpenAIRE)
Scopus
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