Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome
Copyright policy ) Arindam, Sarkar; Lisa T, Emrick; Eboni M, Smith; Elise G, Austin; Yaping, Yang; Jill V, Hunter; Fernando, Scaglia; +1 Authors
Arindam, Sarkar; Lisa T, Emrick; Eboni M, Smith; Elise G, Austin; Yaping, Yang; Jill V, Hunter; Fernando, Scaglia; Seema R, Lalani;
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome
- Boston Children's Hospital United States
- Baylor College of Medicine United States
Male, Heterozygote, DNA Mutational Analysis, Syndrome, Peptide Elongation Factors, Radiography, Codon, Nonsense, Child, Preschool, Microcephaly, Humans, Abnormalities, Multiple, Exome, Female, Genetic Association Studies, Mandibulofacial Dysostosis, Ribonucleoprotein, U5 Small Nuclear
Male, Heterozygote, DNA Mutational Analysis, Syndrome, Peptide Elongation Factors, Radiography, Codon, Nonsense, Child, Preschool, Microcephaly, Humans, Abnormalities, Multiple, Exome, Female, Genetic Association Studies, Mandibulofacial Dysostosis, Ribonucleoprotein, U5 Small Nuclear
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).16 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
citations
Citations provided by BIP!
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Popularity provided by BIP! 16
Top 10%
Average
Average
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