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Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue 2, pp. 112 - 117
Abstract 4H leukodystrophy is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. With its variability in clinical symptoms,... 
Original Article | MRI | 4H leukodystrophy | CATALYTIC SUBUNIT | POL III | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | PATTERN-RECOGNITION | MULTIPLE-SCLEROSIS | HYPOMYELINATING LEUKODYSTROPHY | PEDIATRICS | MUTATIONS | HYPOGONADOTROPIC HYPOGONADISM | HYPODONTIA | POLYMERASE-III
Journal Article
Yonago Acta Medica, ISSN 0513-5710, 03/2017, Volume 60, Issue 1, pp. 24 - 30
Background High resolution melting (HRM) is a post-PCR technique for variant screening and genotyping based on the different melting points of DNA fragments.... 
APOA1 | HRM | Optimization | MEDICINE, RESEARCH & EXPERIMENTAL | optimization | HDL METABOLISM
Journal Article
Neuropediatrics, ISSN 0174-304X, 06/2015, Volume 46, Issue 3, pp. 221 - 228
Objective This study aims to ascertain frequency of mutations in POFR3A or POFR3B, which are associated with 4H leukodystrophy, in a cohort of patients with... 
Journal Article
Neuropediatrics, 04/2018, Volume 49, Issue 2, p. 112
4H leukodystrophy is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. With its variability in clinical symptoms, application of... 
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 12, pp. 1145 - 1149
Journal Article
Neuropediatrics, ISSN 0174-304X, 2015, Volume 46, Issue 3, pp. 221 - 227
Objective This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with... 
Original Article | 4H syndrome | POLR3A | hypomyelination | POLR3B | MRI | CATALYTIC SUBUNIT | BASAL GANGLIA | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | LEUKODYSTROPHIES | CEREBELLUM | PEDIATRICS | SPECTRUM | HYPOGONADOTROPIC HYPOGONADISM | HYPODONTIA | POLYMERASE-III
Journal Article
neurogenetics, ISSN 1364-6745, 12/2017, Volume 18, Issue 4, pp. 185 - 194
Journal Article
Neuropediatrics, ISSN 0174-304X, 2017, Volume 48, Issue 3, pp. 152 - 160
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder... 
Original Article | MRI | leukodystrophy | hypomyelination | HYPOMYELINATING LEUKODYSTROPHIES | RNA-POLYMERASE III | RECESSIVE MUTATIONS | DISORDERS | POLR3B MUTATIONS | CEREBRAL ATROPHY | GROSS MOTOR FUNCTION | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | MULTIPLE-SCLEROSIS | PEDIATRICS | HYPOGONADOTROPIC HYPOGONADISM
Journal Article
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