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[null,"1.","Record Nr.",null,"UNISALENTO991003475679707536"]
[null,null,"Titolo",null,"Who's who in Italy : a biographical dictionary containing more than 7000 biographies of prominent people in and of Italy and about 3000 organizations / edited by Otto J. Groeg"]
[null,null,"Pubbl/distr/stampa",null,"Bresso : Who's who in Italy, 1980"]
[null,null,"Edizione",null,"[3. ed.]"]
[null,null,"Descrizione fisica",null,"VIII, 697 p. : tav. ; 20 cm"]
[null,null,"Disciplina",null,"920.045"]
[null,null,"Soggetti",null,"Italia Biografie Dizionari"]
[null,null,"Lingua di pubblicazione",null,"Italiano"]
[null,null,"Formato",null,"Materiale a stampa"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,"2.","Record Nr.",null,"UNINA9910300066103321"]
[null,null,"Titolo",null,"Inherited Chorioretinal Dystrophies : A Textbook and Atlas / / edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder"]
[null,null,"Pubbl/distr/stampa",null,"Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014"]
[null,null,"ISBN",null,"3-540-69466-8"]
[null,null,"Edizione",null,"[1st ed. 2014.]"]
[null,null,"Descrizione fisica",null,"1 online resource (477 p.)"]
[null,null,"Disciplina",null,"599935"]
[{"$nulls":4},"610"]
[{"$nulls":4},"611.01816"]
[{"$nulls":4},"616.07"]
[null,null,"Soggetti",null,"Ophthalmology"]
[{"$nulls":4},"Medical genetics"]
[{"$nulls":4},"Pathology"]
[{"$nulls":4},"Medical Genetics"]
[null,null,"Lingua di pubblicazione",null,"Inglese"]
[null,null,"Formato",null,"Materiale a stampa"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,null,null,"Note generali","Description based upon print version of record."]
[null,null,null,"Nota di bibliografia","Includes bibliographical references and index at the end of each chapters."]
[null,null,"Nota di contenuto",null,"Investigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fundus autofluorescence in retinal dystrophies -- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies -- Inherited stationary disorders of the retina -- Retinitis pigmentosa and allied disorders -- Leber congenital amaurosis -- Retinitis punctata albescens -- Usher Syndromes -- Cone and Cone-rod dystrophies -- Enhanced S-Cone syndrome -- Chorioretinopathies: Choroideremia and gyrate atrophy -- Late onset retinal degeneration -- Stargardt Disease -- Bestrophinopathies -- Retinal dystrophies associated with the PRPH2 gene -- Alström syndrome -- Bardet-Biedl syndrome -- Cohen syndrome -- Juvenile neuronal ceroid lipofuscinosis (JNCL) -- Adult Refsum disease -- Abetalipoproteinemia -- LCHAD deficiency -- Jalili syndrome -- Spinocerebellar ataxia -- Dominant cystoid macular dystrophy -- Autosomal dominant Stargardt-like macular dystrophy (ELOVL4). - Spastic paraplegia and retinal degeneration. Kjellin syndrome -- "]
[{"$nulls":4},"Autosomal dominant drusen -- Cuticular drusen -- Extensive macular atrophy with pseudodrusen-like appearance (EMAP) -- Congenital hypotrichosis with juvenile macular dystrophy -- Mitochondrial retinopathies -- Sorsby fundus dystrophy -- Bietti crystalline corneoretinal dystrophy -- Cystinosis -- Oxalosis -- Alport syndrome -- X-linked retinoschisis -- Paramacular choriocapillaris atrophy -- Exudative vitreoretinopathy -- Stickler syndrome -- Wagner syndrome -- Incontinentia pigmenti Type II (IP2) -- Ganglion cell disease -- Pseudoxanthoma elasticum -- Aicardi Syndrome -- Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome) -- Alagille syndrome -- Future therapies for retinitis pigmentosa."]
[null,null,null,"Sommario/riassunto","This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas."]