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First published 1983-02

Juvenile Nephronophthisis with Blindness in a Three-month-old Infant

Philip A. Gruppuso, Patricia A. O'Shea, Jay M. Orson [...]

Clinical Pediatrics

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Other

First published 2007-02

A Case of Cerebello-oculo-renal Syndrome with Situs Inversus Totalis: A New Phenotype

Secil Aydinoz, Atilla Ersen, Ferhan Karademir [...]

Journal of Child Neurology

Free access

Research article

First published 2015-5

Nephronophthisis and Retinal Degeneration in Tmem218 –/– Mice

P. Vogel, C. M. Gelfman, T. Issa [...]

Veterinary Pathology

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Other

First published 2002-05

Cerebellar Vermis Hypoplasia in a Patient With Bardet-Biedl Syndrome

Esra Baskin, Sinan Mahir Kayran, Sibel Oto [...]

Journal of Child Neurology

Open access

Case report

First published 2015

A Case of Hydrometrocolpos and Polydactyly

Deepak Sharma, Srinivas Murki, Oleti Tejo Pratap [...]

Clinical Medicine Insights: Pediatrics

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Case report

First published 2023-1

How ‘eye’ helped in von Hippel-Lindau syndrome

Swati Tyagi, Kritika Chopra Kumar, Komal Saluja

European Journal of Ophthalmology

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Research article

First published 1984-9

Visual Function in Diabetic Patients Undergoing Dialysis: Comparison of Peritoneal and Hemodialysis

J.A. Diaz-Buxo, W.P. Burgess, M. Greenman [...]

The International Journal of Artificial Organs

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Research article

First published 2013-3

Alstrom syndrome – a diagnosis revisited

Bharati Vusirikala, Veena Rajkumar, Maitrayee Choudhary [...]

The British Journal of Diabetes & Vascular Disease

Open access

Research article

First published 2025-9

Psychosis as a rare neuropsychiatric manifestation of Bardet–Biedl syndrome: A case report

Selebogo Moremi, Mpho Hubona, Taboka Maphorisa [...]

Journal of International Medical Research

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Research article

First published 1986-10

Cerebro-Oculo-Hepato-Renal Syndrome (Arima's Syndrome): A Distinct Clinocopathological Entity

Tetsuo Matsuzaka, Norio Sakuragawa, Hiroshi Nakayama [...]

Journal of Child Neurology

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