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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 974 - 983
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 08/2019, Volume 27, Issue 8, pp. 1254 - 1259
De novo DDX3X variants account for 1-3% of syndromic intellectual disability (ID) in females and have been occasionally reported in males. Furthermore, somatic... 
DISABILITY | PHENOTYPE | MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMMON-CAUSE | GENETICS & HEREDITY | Basal ganglia | Mesencephalon | Brain tumors | Medulloblastoma | Brain cancer | Cortex | Hindbrain | Females | Astrocytoma | Ganglia
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1319 - 1329
RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated... 
retinitis pigmentosa | homeobox-containing transcription factor | loss of function | novel ARRP gene | RAX2
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 1028 - 1028
The original version of this Article contained an incorrect version of Fig. 3, which included two variants initially shown in black text in Fig. 3a that the... 
Journal Article
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS, ISSN 1756-2856, 06/2019, Volume 12, p. 1756286419850433
We describe a family with a novel TNPO3 mutation of limb-girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance,... 
LGMD | VALIDATION | GIRDLE MUSCULAR-DYSTROPHY | QUALITY-OF-LIFE | QUESTIONNAIRE | TNPO3 | CLINICAL NEUROLOGY | transportinopathy
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 426 - 430
Journal Article