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perrault syndrome (78) 78
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Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2015, Volume 11, Issue 3, p. e1005097
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1354 - 1362
Journal Article
European journal of medical genetics, ISSN 1769-7212, 08/2019, p. 103733
Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency.... 
Journal Article
Journal Article
Medecine Therapeutique Medecine de la Reproduction, Gynecologie et Endocrinologie, ISSN 1295-9359, 01/2017, Volume 19, Issue 1, pp. 21 - 28
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 404 - 408
Journal Article
Journal Article
Journal Article
Frontiers in neurology, ISSN 1664-2295, 2016, Volume 7, p. 203
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical... 
Brain-MRI | Perrault syndrome type 3 | CLPP | Perrault syndrome | Genetic diagnosis | EXOME | VARIANTS | brain-MRI | PHENOTYPE | genetic diagnosis | NEUROSCIENCES | CLINICAL NEUROLOGY | PATIENT | MUTATIONS | SPECTRUM | brain MRI
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 08/2017, Volume 18, Issue 1, p. 91
Journal Article