Page last updated: 2024-08-21

pseudouridine and Microcephaly

pseudouridine has been researched along with Microcephaly in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	1 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Abdel-Salam, GMH; Al-Sheddi, T; Alazami, AM; Alkuraya, FS; Alobeid, E; Maddirevula, S; Phizicky, EM; Sayed, ISM; Shaheen, R; Tasak, M	1

Other Studies

1 other study(ies) available for pseudouridine and Microcephaly

Article	Year
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Human genetics, 2019, Volume: 138, Issue:3 Topics: Adolescent; Amino Acid Sequence; Child; Chromosome Mapping; Consanguinity; Exome Sequencing; Female; Genes, Recessive; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Intellectual Disability; Male; Microcephaly; Mutation; Pedigree; Phenotype; Pseudouridine; RNA, Transfer	2019

Article

Year

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Human genetics, 2019, Volume: 138, Issue:3

Topics: Adolescent; Amino Acid Sequence; Child; Chromosome Mapping; Consanguinity; Exome Sequencing; Female; Genes, Recessive; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Intellectual Disability; Male; Microcephaly; Mutation; Pedigree; Phenotype; Pseudouridine; RNA, Transfer

2019