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Lancet, The, ISSN 0140-6736, 2011, Volume 378, Issue 9809, pp. 2081 - 2087
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2009, Volume 10, Issue 8, pp. 764 - 771
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2012, Volume 13, Issue 12, pp. 1242 - 1249
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 1, pp. 54 - 62
Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine... 
Neurology | METABOLITES | TRANSMISSION | INFANTILE PARKINSONISM-DYSTONIA | CSF | NEUROSCIENCE | DISORDERS | TYROSINE-HYDROXYLASE DEFICIENCY | MONOAMINE TRANSPORTERS | CLINICAL NEUROLOGY | Brain - diagnostic imaging | Dystonia - cerebrospinal fluid | Parkinsonian Disorders - cerebrospinal fluid | Tomography, Emission-Computed, Single-Photon - methods | Humans | Child, Preschool | Dopamine Plasma Membrane Transport Proteins - deficiency | Hydroxyindoleacetic Acid - cerebrospinal fluid | Infant | Male | Ocular Motility Disorders - genetics | Dystonia - genetics | Transfection - methods | Parkinsonian Disorders - diagnostic imaging | Female | Parkinsonian Disorders - genetics | Retrospective Studies | Homovanillic Acid - cerebrospinal fluid | Child | Parkinsonian Disorders - physiopathology | Dystonia - physiopathology | Mutation - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Brain - pathology | Ocular Motility Disorders - physiopathology | Dystonia - diagnostic imaging | Cell Line, Transformed | Cohort Studies | Medical colleges | Medical research | Neurosciences | Dopamine | Molecular genetics | Medicine, Experimental | Phenols | Genetic aspects | Biomedical engineering | Pediatrics | Basal ganglia | Congenital defects | Central nervous system diseases | homovanillic acid | Photons | Cerebrospinal fluid | Pyramidal tracts | Drug development | Hereditary diseases | Eye | Hospitals | Computed tomography | Phenotyping | Dopamine transporter | Children | Mutation | Paralysis | Age | Movement disorders | Fast track
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 387, pp. S19 - S19
Abstract Background Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC , and SDHD are the most frequent causes of inherited... 
Internal Medicine | Hospitals | Gene mutations | Genes | Genetic research | United Kingdom | Genetic aspects | Tumors
Journal Article
Lancet, The, ISSN 0140-6736, 2011, Volume 377, Issue 9777, pp. 1624 - 1624
Journal Article
The Lancet, ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2011, Volume 19, Issue 6, pp. 617 - 623
The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL... 
renal cysts | phaeochromocytoma | renal carcinoma | VHL | von Hippel-Lindau | haemangioblastoma | SPARING SURGERY | GENOTYPE-PHENOTYPE CORRELATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TUMOR-SUPPRESSOR GENE | ENDOCRINE NEOPLASIA TYPE-2 | NATURAL-HISTORY | RETINAL HEMANGIOBLASTOMA | RENAL-CELL CARCINOMA | RECEPTOR INHIBITOR SU5416 | GENETICS & HEREDITY | CENTRAL-NERVOUS-SYSTEM | ENDOLYMPHATIC SAC TUMORS | Genetic Predisposition to Disease | Carcinoma, Renal Cell - pathology | Pheochromocytoma - diagnosis | Pheochromocytoma - etiology | Hemangioblastoma - etiology | Humans | Carcinoma, Renal Cell - genetics | Hemangioblastoma - diagnosis | von Hippel-Lindau Disease - complications | von Hippel-Lindau Disease - genetics | von Hippel-Lindau Disease - diagnosis | Magnetic Resonance Imaging | von Hippel-Lindau Disease - pathology | Hemangioblastoma - pathology | Mass Screening | Genes, Dominant | Hemangioblastoma - genetics | Carcinoma, Renal Cell - diagnosis | Germ-Line Mutation | Pheochromocytoma - pathology | Pheochromocytoma - genetics | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Adrenal Gland Neoplasms | Carcinoma, Renal Cell - etiology | Biomedical research | Medical imaging | Central nervous system | Retina | Nervous system | Family medical history | Preventive medicine | Patients | Von Hippel-Lindau disease | Reviews | Cysts | Genetics | VHL protein | Mutation | Neoplasia | Clear cell-type renal cell carcinoma | Cancer | Tumors | Practical Genetics | von Hippel–Lindau
Journal Article