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Brain, ISSN 0006-8950, 02/2015, Volume 138, Issue 2, pp. 276 - 283
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic,... 
Whole exome sequencing | Ataxia | DIAGNOSIS | HEREDITARY SPASTIC PARAPLEGIA | ATROPHY | DISORDERS | NEUROSCIENCES | whole exome sequencing | CLINICAL NEUROLOGY | IMPAIRMENT | ataxia | GENE | CEREBELLAR-ATAXIA | DISEASE | SPG15 | MUTATIONS | Reports
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Journal Article
BMC Genomics, ISSN 1471-2164, 06/2018, Volume 19, Issue 1, pp. 487 - 14
Journal Article
JAMA Pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 06/2016, Volume 7, p. 220
Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However,... 
VARIANTS | next-generation sequencing | LRBA | IKAROS | STXBP2 | genetic diagnosis | common variable immunodeficiency | IMMUNOLOGY | whole exome sequencing | DEFICIENCY | GENOME | IMMUNE DYSREGULATION | primary immunodeficiencies | FRAMEWORK | UPDATE | MUTATIONS | Genetic research | Immunological deficiency syndromes | B cells
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1324 - 13
Journal Article