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Journal Article
by Li, XF and Liu, Y and Yue, S and Wang, L and Zhang, TJ and Guo, CX and Hu, WJ and Kagan, KO and Wu, QQ
MEDICINE, ISSN 0025-7974, 11/2017, Volume 96, Issue 45, p. e8474
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 06/2019, Volume 66, Issue 6, pp. e27715 - n/a
Mosaic genome‐wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble... 
tumors | paternal uniparental disomy | syndrome | body asymmetry | ISODISOMY | ONCOLOGY | PEDIATRICS | HEMATOLOGY | BECKWITH-WIEDEMANN SYNDROME | FEATURES | Genomics | Tumors
Journal Article
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 2, pp. 186 - 191
OBJECTIVE:Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD:Herein, we describe 4 novel homozygous FA2H... 
ISODISOMY | CLINICAL NEUROLOGY | Heredodegenerative Disorders, Nervous System - genetics | Humans | Uniparental Disomy | Male | Codon, Nonsense | Mutation, Missense | Adolescent | Chromosomes, Human, Pair 16 | Family | Female | Mixed Function Oxygenases - genetics | Child | Microsatellite Repeats | 313 | 162 | 163 | 174
Journal Article
Journal Article