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1 Ergebnisse
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Expanding the clinical phenotype in patients with disease c..:
Igelman, Austin D
;
Ku, Cristy
;
da Palma, Mariana Matioli
...
qt0vc5m5k3. , 2021
Link:
https://escholarship.org/uc/item/0vc5m5k3
RT Journal T1
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt0vc5m5k3&Exemplar=1&LAN=DE A1 Igelman, Austin D A1 Ku, Cristy A1 da Palma, Mariana Matioli A1 Georgiou, Michalis A1 Schiff, Elena R A1 Lam, Byron L A1 Sankila, Eeva-Marja A1 Ahn, Jeeyun A1 Pyers, Lindsey A1 Vincent, Ajoy A1 Sallum, Juliana Maria Ferraz A1 Zein, Wadih M A1 Oh, Jin Kyun A1 Maldonado, Ramiro S A1 Ryu, Joseph A1 Tsang, Stephen H A1 Gorin, Michael B A1 Webster, Andrew R A1 Michaelides, Michel A1 Yang, Paul A1 Pennesi, Mark E PB eScholarship, University of California YR 2021 K1 Clinical Research K1 Genetics K1 Eye Disease and Disorders of Vision K1 Neurosciences K1 Neurodegenerative K1 Pediatric K1 Orphan Drug K1 Rare Diseases K1 2.1 Biological and endogenous factors K1 Aetiology K1 Eye K1 Adolescent K1 Adult K1 Aged K1 Arylsulfatases K1 Autoantigens K1 Cell Cycle Proteins K1 Codon K1 Nonsense K1 Cone-Rod Dystrophies K1 Female K1 Frameshift Mutation K1 Genetic Testing K1 Hearing Loss K1 Sensorineural K1 Humans K1 Male K1 Middle Aged K1 Monoacylglycerol Lipases K1 Multimodal Imaging K1 Phenotype K1 Retinal Pigment Epithelium K1 Retrospective Studies K1 Tomography K1 Optical Coherence K1 Usher Syndromes K1 Visual Acuity K1 Young Adult K1 Atypical usher syndrome K1 CEP78 K1 cep250 K1 ARSG K1 ABHD12 K1 Opthalmology and Optometry K1 Ophthalmology & Optometry JF qt0vc5m5k3 LK http://dx.doi.org/https://escholarship.org/uc/item/0vc5m5k3 DO https://escholarship.org/uc/item/0vc5m5k3 SF ELIB - SuUB Bremen
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