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Journal of Neurosurgery, ISSN 0022-3085, 01/2003, Volume 98, Issue 1, pp. 82 - 94
Journal Article
Medicine (United States), ISSN 0025-7974, 11/2017, Volume 96, Issue 47, pp. e8684 - e8684
Journal Article
Nature Medicine, ISSN 1078-8956, 09/2009, Volume 15, Issue 9, pp. 1062 - 1065
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Brain, ISSN 0006-8950, 02/2011, Volume 134, Issue 2, pp. 405 - 414
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 6/2014, Volume 35, Issue 2, pp. 91 - 106
Abstract Purpose: To investigate genotype-phenotype correlation and to analyze functional and structural changes in the retina of patients with von... 
VHL disease | Genotype-phenotype correlation | retinal function and structure | Retinal function and structure | VHL GENE | PROTEIN | TUMOR-SUPPRESSOR GENE | RENAL-CELL CARCINOMA | GERM-LINE MUTATIONS | PHEOCHROMOCYTOMA | ANGIOMATOSIS | MOLECULAR PATHOLOGY | HEMANGIOBLASTOMA | GENETICS & HEREDITY | OPHTHALMOLOGY | EXPRESSION | Adrenal Gland Neoplasms - surgery | Hemangioblastoma - surgery | Kidney Neoplasms - genetics | Humans | Middle Aged | Carcinoma, Renal Cell - genetics | Carcinoma, Renal Cell - surgery | Male | Mutation, Missense | Pheochromocytoma - physiopathology | Young Adult | Kidney Neoplasms - surgery | Carcinoma, Renal Cell - physiopathology | Kidney Neoplasms - physiopathology | DNA Mutational Analysis | Retinal Neoplasms - physiopathology | Adult | Female | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Cerebellar Neoplasms - physiopathology | Electroretinography | Genetic Association Studies | Tomography, Optical Coherence | Retina - physiopathology | Cerebellar Neoplasms - genetics | von Hippel-Lindau Disease - genetics | von Hippel-Lindau Disease - physiopathology | Hemangioblastoma - physiopathology | Adrenal Gland Neoplasms - physiopathology | Hemangioblastoma - genetics | Pedigree | Adolescent | Pheochromocytoma - genetics | Aged | Pheochromocytoma - surgery | Retinal Neoplasms - surgery | Cerebellar Neoplasms - surgery | Adrenal Gland Neoplasms - genetics | Retinal Neoplasms - genetics | Index Medicus | Carcinoma | pedigree analysis | retinal thickness | structure analysis | B wave | optic nerve tumor | VHL gene | central nervous system tumor | Oftalmologi | Tomography | neuroendocrine tumor | Ophthalmology | female | A wave | Retinal Neoplasms | Kidney Neoplasms | Goldenhar syndrome | Optical Coherence | gene | pheochromocytoma | article | genetic analysis | Cerebellar Neoplasms | electroretinogram | functional assessment | Adrenal Gland Neoplasms | Mutation | adult | Missense | male | optical coherence tomography | clinical examination | hemangioblastoma | electroretinography | missense mutation | Renal Cell | clinical article | retina | priority journal | human | phenotype | genotype phenotype correlation | gene mutation | von Hippel Lindau disease | aged | visual acuity | von Hippel-Lindau Disease | eye examination | controlled study | mutational analysis | exon
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Retina, ISSN 0275-004X, 02/2016, Volume 36, Issue 2, pp. 325 - 334
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